Canonical Allele Identifier: CA414774883
Gene: MT-ND2 HGNC NCBI

Linked Data

ClinVar Variation Id: 618727
ClinVar RCV Id: RCV000757486
dbSNP Id: rs1569483945
MyVariant Identifiers: chrMT:g.4597T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4597T>C , J01415.2:m.4597T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361453.3:c.128T>C ENSP00000355046.4:p.Val43Ala