ClinGen Allele Registry
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Canonical Allele Identifier:
CA340941
Gene: MT-ND2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9718
ClinVar RCV Id:
RCV000010366
RCV000853787
dbSNP Id:
rs387906426
MyVariant Identifiers:
chrMT:g.4640C>A (hg38)
PubMed:
PMID:11479733
PMID:20301353
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4640C>A , J01415.2:m.4640C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361453.3:c.171C>A
ENSP00000355046.4:p.Ile57=
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