Canonical Allele Identifier: CA414774953
Gene: MT-ND2 HGNC NCBI

Linked Data

ClinVar Variation Id: 692467
ClinVar RCV Id: RCV000853782
dbSNP Id: rs1603219525
MyVariant Identifiers: chrMT:g.4612T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.4612T>C , J01415.2:m.4612T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361453.3:c.143T>C ENSP00000355046.4:p.Ile48Thr
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