Canonical Allele Identifier: CA532206400

Gene:

Linked Data

• dbSNP Id: rs1226725357
• gnomAD v2: 2-41761723-T-G
• MyVariant Identifiers: chr2:g.41761723T>G (hg19) ; chr2:g.41534583T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.41534583T>G , CM000664.2:g.41534583T>G	GRCh38
NC_000002.11:g.41761723T>G , CM000664.1:g.41761723T>G	GRCh37
NC_000002.10:g.41615227T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939996.1:n.181+3143A>C
XR_939997.1:n.146+3143A>C
XR_939997.2:n.9529+3143A>C