Canonical Allele Identifier: CA46769585

Gene:

Linked Data

• dbSNP Id: rs57545718
• gnomAD v2: 2-41761822-G-A
• gnomAD v3: 2-41534682-G-A
• gnomAD v4: 2-41534682-G-A
• MyVariant Identifiers: chr2:g.41761822G>A (hg19) ; chr2:g.41534682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.41534682G>A , CM000664.2:g.41534682G>A	GRCh38
NC_000002.11:g.41761822G>A , CM000664.1:g.41761822G>A	GRCh37
NC_000002.10:g.41615326G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939996.1:n.181+3044C>T
XR_939997.1:n.146+3044C>T
XR_939997.2:n.9529+3044C>T