Canonical Allele Identifier: CA756174497

Gene:

Linked Data

• dbSNP Id: rs1403472040
• gnomAD v3: 2-122369163-A-G
• gnomAD v4: 2-122369163-A-G
• MyVariant Identifiers: chr2:g.123126739A>G (hg19) ; chr2:g.122369163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122369163A>G , CM000664.2:g.122369163A>G	GRCh38
NC_000002.11:g.123126739A>G , CM000664.1:g.123126739A>G	GRCh37
NC_000002.10:g.122843209A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-23800A>G
XR_001739684.1:n.556-23800A>G