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Canonical Allele Identifier: CA2698018380
Community Standard Title: NM_206933.4(USH2A):c.6486-574A>C
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215999632T>G , CM000663.2:g.215999632T>G GRCh38
NC_000001.10:g.216172974T>G , CM000663.1:g.216172974T>G GRCh37
NC_000001.9:g.214239597T>G NCBI36
NG_009497.1:g.428765A>C
NG_009497.2:g.428817A>C

Transcript Alleles

HGVS Amino-acid Change
NM_206933.4:c.6486-574A>C MANE Select NP_996816.3:n.6486-574A>C
ENST00000307340.8:c.6486-574A>C MANE Select ENSP00000305941.3:n.6486-574A>C
NM_206933.2:c.6486-574A>C NP_996816.2:n.6486-574A>C
NM_206933.3:c.6486-574A>C NP_996816.2:n.6486-574A>C
ENST00000307340.7:c.6486-574A>C ENSP00000305941.3:n.6486-574A>C
ENST00000674083.1:c.6486-574A>C ENSP00000501296.1:n.6486-574A>C
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