This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA2963261573
Gene: ITGA2B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44380160G>T , CM000679.2:g.44380160G>T GRCh38
NC_000017.10:g.42457528G>T , CM000679.1:g.42457528G>T GRCh37
NC_000017.9:g.39813054G>T NCBI36
NG_008331.1:g.14346C>A , LRG_479:g.14346C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.1601-7C>A MANE Select ENSP00000262407.5:n.1601-7C>A
ENST00000648408.1:c.1032-7C>A
ENST00000262407.5:c.1601-7C>A ENSP00000262407.5:n.1601-7C>A
ENST00000592226.5:n.1074-7C>A
ENST00000592462.5:n.396-7C>A
NM_000419.3:c.1601-7C>A , LRG_479t1:c.1601-7C>A NP_000410.2:n.1601-7C>A
XM_011524749.1:c.1601-7C>A XP_011523051.1:n.1601-7C>A
XM_011524750.1:c.1601-7C>A XP_011523052.1:n.1601-7C>A
NM_000419.4:c.1601-7C>A NP_000410.2:n.1601-7C>A
NM_000419.5:c.1601-7C>A MANE Select NP_000410.2:n.1601-7C>A
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