ClinGen Allele Registry
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Canonical Allele Identifier:
CA120644
Gene: MT-ND2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.4681T>C
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010369
RCV000144022
ClinVar Variation:
9721
dbSNP:
267606889
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'