Canonical Allele Identifier: CA427349529

Gene:

Linked Data

• gnomAD v3: 2-88016434-C-A
• gnomAD v4: 2-88016434-C-A
• MyVariant Identifiers: chr2:g.88315953C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016434C>A , CM000664.2:g.88016434C>A	GRCh38
NC_000002.11:g.88315953C>A , CM000664.1:g.88315953C>A	GRCh37
NC_000002.10:g.88097068C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.779C>A
XR_940336.3:n.779C>A