Canonical Allele Identifier: CA66116922

Gene: DIRC3

Linked Data

• dbSNP Id: rs528971187
• gnomAD v2: 2-218310328-T-C
• gnomAD v3: 2-217445605-T-C
• gnomAD v4: 2-217445605-T-C
• MyVariant Identifiers: chr2:g.218310328T>C (hg19) ; chr2:g.217445605T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.217445605T>C , CM000664.2:g.217445605T>C	GRCh38
NC_000002.11:g.218310328T>C , CM000664.1:g.218310328T>C	GRCh37
NC_000002.10:g.218018573T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474063.5:n.500-11489A>G
ENST00000486365.5:n.1523-11489A>G
NR_026597.1:n.1523-11489A>G
NR_026597.2:n.1523-11489A>G