Canonical Allele Identifier: CA532206393

Gene:

Linked Data

• dbSNP Id: rs944639195
• gnomAD v2: 2-41761595-G-T
• gnomAD v3: 2-41534455-G-T
• gnomAD v4: 2-41534455-G-T
• MyVariant Identifiers: chr2:g.41761595G>T (hg19) ; chr2:g.41534455G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.41534455G>T , CM000664.2:g.41534455G>T	GRCh38
NC_000002.11:g.41761595G>T , CM000664.1:g.41761595G>T	GRCh37
NC_000002.10:g.41615099G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939996.1:n.181+3271C>A
XR_939997.1:n.146+3271C>A
XR_939997.2:n.9529+3271C>A