Allele Registry

Canonical Allele Identifier: CA340940

Gene: MT-ND2 HGNC NCBI

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Uncertain Significance

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.5244G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010365

RCV003985260

ClinVar Variation:

9717

dbSNP:

199476115

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.5244G>A , J01415.2:m.5244G>A	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361453.3:c.775G>A	ENSP00000355046.4:p.Gly259Ser

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