Canonical Allele Identifier: CA414775615
Gene: MT-ND2 HGNC NCBI

Linked Data

ClinVar Variation Id: 692496
ClinVar RCV Id: RCV000853812
dbSNP Id: rs1603219596
MyVariant Identifiers: chrMT:g.4749T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4749T>C , J01415.2:m.4749T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361453.3:c.280T>C ENSP00000355046.4:p.Ser94Pro