Canonical Allele Identifier: CA296068151

Gene: IMPA2

Linked Data

• dbSNP Id: rs767565347
• gnomAD v2: 18-12017399-ACT-A
• gnomAD v3: 18-12017400-ACT-A
• gnomAD v4: 18-12017400-ACT-A
• MyVariant Identifiers: chr18:g.12017400_12017401del (hg19) ; chr18:g.12017401_12017402del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12017405_12017406del , CM000680.2:g.12017405_12017406del	GRCh38
NC_000018.9:g.12017404_12017405del , CM000680.1:g.12017404_12017405del	GRCh37
NC_000018.8:g.12007404_12007405del	NCBI36
NG_028104.1:g.40950_40951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269159.8:c.490+3032_490+3033del MANE Select	ENSP00000269159.3:n.490+3032_490+3033del
ENST00000269159.7:c.490+3032_490+3033del	ENSP00000269159.3:n.490+3032_490+3033del
ENST00000383376.9:c.*492-209_*492-208del	ENSP00000372867.4:n.*492-209_*492-208del
ENST00000586230.1:c.212+3032_212+3033del
ENST00000588167.1:n.243+3032_243+3033del
ENST00000588752.5:n.575+3032_575+3033del
ENST00000588927.5:c.-78+3032_-78+3033del	ENSP00000464767.1:n.-78+3032_-78+3033del
ENST00000589238.5:c.-78+3032_-78+3033del	ENSP00000465416.1:n.-78+3032_-78+3033del
ENST00000590107.5:c.*132+3032_*132+3033del	ENSP00000466059.1:n.*132+3032_*132+3033del
ENST00000590138.1:c.*93+3032_*93+3033del	ENSP00000465938.1:n.*93+3032_*93+3033del
NM_014214.2:c.490+3032_490+3033del	NP_055029.1:n.490+3032_490+3033del
XM_011525659.1:c.442+3032_442+3033del	XP_011523961.1:n.442+3032_442+3033del
XM_011525660.1:c.418+3032_418+3033del	XP_011523962.1:n.418+3032_418+3033del
XM_011525661.1:c.130+3032_130+3033del	XP_011523963.1:n.130+3032_130+3033del
XM_011525659.3:c.442+3032_442+3033del	XP_011523961.1:n.442+3032_442+3033del
XM_011525661.3:c.130+3032_130+3033del	XP_011523963.1:n.130+3032_130+3033del
NM_014214.3:c.490+3032_490+3033del MANE Select	NP_055029.1:n.490+3032_490+3033del