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: CA414778501
Gene: MT-ND2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.5014C>T , J01415.2:m.5014C>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361453.3:c.545C>T ENSP00000355046.4:p.Ser182Phe
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