Canonical Allele Identifier: CA340940
Gene: MT-ND2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9717
ClinVar RCV Id: RCV000010365 RCV003985260
dbSNP Id: rs199476115
MyVariant Identifiers: chrMT:g.5244G>A (hg38)
PubMed: PMID:1732158 PMID:20301353
ERepo: CA340940/MONDO:0044970/014
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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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