Canonical Allele Identifier: CA414775615

Gene: MT-ND2

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