Canonical Allele Identifier: CA51878341

Gene:

Linked Data

• dbSNP Id: rs7603671
• gnomAD v2: 2-88315821-G-A
• gnomAD v3: 2-88016302-G-A
• gnomAD v4: 2-88016302-G-A
• MyVariant Identifiers: chr2:g.88315821G>A (hg19) ; chr2:g.88016302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016302G>A , CM000664.2:g.88016302G>A	GRCh38
NC_000002.11:g.88315821G>A , CM000664.1:g.88315821G>A	GRCh37
NC_000002.10:g.88096936G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.647G>A
XR_940336.3:n.647G>A