Canonical Allele Identifier: CA11305540

Gene:

Linked Data

• dbSNP Id: rs13028485
• gnomAD v2: 2-174504924-G-A
• gnomAD v3: 2-173640196-G-A
• gnomAD v4: 2-173640196-G-A
• MyVariant Identifiers: chr2:g.174504924G>A (hg19) ; chr2:g.173640196G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.173640196G>A , CM000664.2:g.173640196G>A	GRCh38
NC_000002.11:g.174504924G>A , CM000664.1:g.174504924G>A	GRCh37
NC_000002.10:g.174213170G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739793.1:n.99-52488G>A