Canonical Allele Identifier: CA296082164

Gene: IMPA2

Linked Data

• dbSNP Id: rs7506045
• gnomAD v2: 18-11987272-C-T
• gnomAD v3: 18-11987273-C-T
• gnomAD v4: 18-11987273-C-T
• MyVariant Identifiers: chr18:g.11987272C>T (hg19) ; chr18:g.11987273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11987273C>T , CM000680.2:g.11987273C>T	GRCh38
NC_000018.9:g.11987272C>T , CM000680.1:g.11987272C>T	GRCh37
NC_000018.8:g.11977272C>T	NCBI36
NG_028104.1:g.10818C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269159.8:c.96+5508C>T MANE Select	ENSP00000269159.3:n.96+5508C>T
ENST00000269159.7:c.96+5508C>T	ENSP00000269159.3:n.96+5508C>T
ENST00000383376.9:c.96+5508C>T	ENSP00000372867.4:n.96+5508C>T
ENST00000588752.5:n.181+6068C>T
ENST00000588927.5:c.-464+5580C>T	ENSP00000464767.1:n.-464+5580C>T
ENST00000589238.5:c.-472+6143C>T	ENSP00000465416.1:n.-472+6143C>T
ENST00000590107.5:c.96+5508C>T	ENSP00000466059.1:n.96+5508C>T
ENST00000590138.1:c.96+5508C>T	ENSP00000465938.1:n.96+5508C>T
ENST00000625802.2:c.96+5508C>T	ENSP00000486461.1:n.96+5508C>T
NM_014214.2:c.96+5508C>T	NP_055029.1:n.96+5508C>T
XM_011525661.1:c.-399+5508C>T	XP_011523963.1:n.-399+5508C>T
XM_011525661.3:c.-399+5508C>T	XP_011523963.1:n.-399+5508C>T
NM_014214.3:c.96+5508C>T MANE Select	NP_055029.1:n.96+5508C>T