Canonical Allele Identifier: CA337097142
Gene: MT-ND2 HGNC NCBI
ClinVar RCV:
RCV000853905
ClinVar Variation:
692587
dbSNP:
3020601
MyVariant.info:
GRCh38 chrMT:g.5442T>C
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.5442T>C , J01415.2:m.5442T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361453.3:c.973T>C ENSP00000355046.4:p.Phe325Leu
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