Canonical Allele Identifier: CA756174305

Gene:

Linked Data

• dbSNP Id: rs1489522486
• gnomAD v3: 2-122368837-T-C
• gnomAD v4: 2-122368837-T-C
• MyVariant Identifiers: chr2:g.123126413T>C (hg19) ; chr2:g.122368837T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122368837T>C , CM000664.2:g.122368837T>C	GRCh38
NC_000002.11:g.123126413T>C , CM000664.1:g.123126413T>C	GRCh37
NC_000002.10:g.122842883T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-24126T>C
XR_001739684.1:n.556-24126T>C