Allele Registry

Canonical Allele Identifier: CA337096951

Gene: MT-ND2 HGNC NCBI

ClinGen Evidence Repository:

Classification Benign

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

MyVariant.info:

GRCh38 chrMT:g.4769A>G

ClinVar RCV:

RCV000509491

RCV002221548

ClinVar Variation:

441150

dbSNP:

3021086

HGVS	Genome Assembly
NC_012920.1:m.4769A>G , J01415.2:m.4769A>G	GRCh38

HGVS	Amino-acid Change
ENST00000361453.3:c.300A>G	ENSP00000355046.4:p.Ile100Met