Canonical Allele Identifier: CA43588555

Gene:

Linked Data

• dbSNP Id: rs949557023
• gnomAD v2: 2-18025215-T-G
• gnomAD v3: 2-17843948-T-G
• gnomAD v4: 2-17843948-T-G
• MyVariant Identifiers: chr2:g.18025215T>G (hg19) ; chr2:g.17843948T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17843948T>G , CM000664.2:g.17843948T>G	GRCh38
NC_000002.11:g.18025215T>G , CM000664.1:g.18025215T>G	GRCh37
NC_000002.10:g.17888696T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939764.2:n.447+3746A>C