Canonical Allele Identifier: CA46769473

Gene:

Linked Data

• dbSNP Id: rs779814198
• gnomAD v2: 2-41761706-A-G
• gnomAD v3: 2-41534566-A-G
• gnomAD v4: 2-41534566-A-G
• MyVariant Identifiers: chr2:g.41761706A>G (hg19) ; chr2:g.41534566A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.41534566A>G , CM000664.2:g.41534566A>G	GRCh38
NC_000002.11:g.41761706A>G , CM000664.1:g.41761706A>G	GRCh37
NC_000002.10:g.41615210A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939996.1:n.181+3160T>C
XR_939997.1:n.146+3160T>C
XR_939997.2:n.9529+3160T>C