Canonical Allele Identifier: CA414775463
Gene: MT-ND2 HGNC NCBI

Linked Data

ClinVar Variation Id: 692486
ClinVar RCV Id: RCV000853802
dbSNP Id: rs1603219578
MyVariant Identifiers: chrMT:g.4717A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4717A>T , J01415.2:m.4717A>T GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361453.3:c.248A>T ENSP00000355046.4:p.Gln83Leu
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