Canonical Allele Identifier: CA414780374
Gene: MT-ND2 HGNC NCBI
ClinVar RCV:
RCV000853906
ClinVar Variation:
692588
dbSNP:
1603219956
MyVariant.info:
GRCh38 chrMT:g.5444C>A
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.5444C>A , J01415.2:m.5444C>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361453.3:c.975C>A ENSP00000355046.4:p.Phe325Leu
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