Canonical Allele Identifier: CA46769588

Gene:

Linked Data

• dbSNP Id: rs1010791845
• MyVariant Identifiers: chr2:g.41761828G>T (hg19) ; chr2:g.41534688G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.41534688G>T , CM000664.2:g.41534688G>T	GRCh38
NC_000002.11:g.41761828G>T , CM000664.1:g.41761828G>T	GRCh37
NC_000002.10:g.41615332G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939996.1:n.181+3038C>A
XR_939997.1:n.146+3038C>A
XR_939997.2:n.9529+3038C>A