Canonical Allele Identifier: CA11328990

Gene:

Linked Data

• dbSNP Id: rs13401620
• gnomAD v2: 2-120513133-G-A
• gnomAD v3: 2-119755557-G-A
• gnomAD v4: 2-119755557-G-A
• MyVariant Identifiers: chr2:g.120513133G>A (hg19) ; chr2:g.119755557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.119755557G>A , CM000664.2:g.119755557G>A	GRCh38
NC_000002.11:g.120513133G>A , CM000664.1:g.120513133G>A	GRCh37
NC_000002.10:g.120229603G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011512306.1:c.582+4075C>T	XP_011510608.1:n.582+4075C>T
XR_001739667.2:n.597+4075C>T
XR_001739676.1:n.54+4890C>T
XR_001739677.2:n.597+4075C>T