ClinGen Allele Registry
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Canonical Allele Identifier:
CA120644
Gene: MT-ND2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9721
ClinVar RCV Id:
RCV000010369
RCV000144022
dbSNP Id:
rs267606889
MyVariant Identifiers:
chrMT:g.4681T>C (hg38)
PubMed:
PMID:16738010
PMID:20301352
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4681T>C , J01415.2:m.4681T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361453.3:c.212T>C
ENSP00000355046.4:p.Leu71Pro
Search 100 bp 5'
Search 100 bp 3'