Canonical Allele Identifier: CA414774565
Gene: MT-ND2 HGNC NCBI

Linked Data

ClinVar Variation Id: 692446
ClinVar RCV Id: RCV000853761
dbSNP Id: rs1603219472
MyVariant Identifiers: chrMT:g.4482G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4482G>A , J01415.2:m.4482G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361453.3:c.13G>A ENSP00000355046.4:p.Ala5Thr