Canonical Allele Identifier: CA120644

Gene: MT-ND2

Linked Data

• ClinVar Variation Id: 9721
• ClinVar RCV Id: RCV000010369 ; RCV000144022
• dbSNP Id: rs267606889
• MyVariant Identifiers: chrMT:g.4681T>C (hg38)
• PubMed: PMID:16738010 ; PMID:20301352

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.4681T>C , J01415.2:m.4681T>C	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361453.3:c.212T>C	ENSP00000355046.4:p.Leu71Pro