Canonical Allele Identifier: CA768889946

Gene:

Linked Data

• dbSNP Id: rs1489444352
• gnomAD v3: 2-41534603-T-C
• gnomAD v4: 2-41534603-T-C
• MyVariant Identifiers: chr2:g.41761743T>C (hg19) ; chr2:g.41534603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.41534603T>C , CM000664.2:g.41534603T>C	GRCh38
NC_000002.11:g.41761743T>C , CM000664.1:g.41761743T>C	GRCh37
NC_000002.10:g.41615247T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939996.1:n.181+3123A>G
XR_939997.1:n.146+3123A>G
XR_939997.2:n.9529+3123A>G