Canonical Allele Identifier: CA414780374
Gene: MT-ND2 HGNC NCBI

Linked Data

ClinVar Variation Id: 692588
ClinVar RCV Id: RCV000853906
dbSNP Id: rs1603219956
MyVariant Identifiers: chrMT:g.5444C>A (hg38)
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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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