ClinGen Allele Registry
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Canonical Allele Identifier:
CA254858
Gene: MT-ND2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.4917A>G
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010364
RCV000853834
ClinVar Variation:
9716
dbSNP:
28357980
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4917A>G , J01415.2:m.4917A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.448A>G
ENSP00000355046.4:p.Asn150Asp
Search 100 bp 5'
Search 100 bp 3'