Canonical Allele Identifier: CA46769574

Gene:

Linked Data

• dbSNP Id: rs748128209
• MyVariant Identifiers: chr2:g.41761814G>C (hg19) ; chr2:g.41534674G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.41534674G>C , CM000664.2:g.41534674G>C	GRCh38
NC_000002.11:g.41761814G>C , CM000664.1:g.41761814G>C	GRCh37
NC_000002.10:g.41615318G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939996.1:n.181+3052C>G
XR_939997.1:n.146+3052C>G
XR_939997.2:n.9529+3052C>G