Canonical Allele Identifier: CA55081997

Gene:

Linked Data

• dbSNP Id: rs892149152
• gnomAD v3: 2-122883847-G-A
• gnomAD v4: 2-122883847-G-A
• MyVariant Identifiers: chr2:g.123641423G>A (hg19) ; chr2:g.122883847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122883847G>A , CM000664.2:g.122883847G>A	GRCh38
NC_000002.11:g.123641423G>A , CM000664.1:g.123641423G>A	GRCh37
NC_000002.10:g.123357893G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923292.1:n.1125-1095G>A
XR_001739692.1:n.1451-1095G>A
XR_923292.2:n.1358-1095G>A