Canonical Allele Identifier: CA296068143

Gene: IMPA2

Linked Data

• dbSNP Id: rs922983224
• gnomAD v2: 18-12017392-C-CAAT
• gnomAD v3: 18-12017393-C-CAAT
• gnomAD v4: 18-12017393-C-CAAT
• MyVariant Identifiers: chr18:g.12017392_12017393insAAT (hg19) ; chr18:g.12017393_12017394insAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12017395_12017397dup , CM000680.2:g.12017395_12017397dup	GRCh38
NC_000018.9:g.12017394_12017396dup , CM000680.1:g.12017394_12017396dup	GRCh37
NC_000018.8:g.12007394_12007396dup	NCBI36
NG_028104.1:g.40940_40942dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269159.8:c.490+3022_490+3024dup MANE Select	ENSP00000269159.3:n.490+3022_490+3024dup
ENST00000269159.7:c.490+3022_490+3024dup	ENSP00000269159.3:n.490+3022_490+3024dup
ENST00000383376.9:c.*492-219_*492-217dup	ENSP00000372867.4:n.*492-219_*492-217dup
ENST00000586230.1:c.212+3022_212+3024dup
ENST00000588167.1:n.243+3022_243+3024dup
ENST00000588752.5:n.575+3022_575+3024dup
ENST00000588927.5:c.-78+3022_-78+3024dup	ENSP00000464767.1:n.-78+3022_-78+3024dup
ENST00000589238.5:c.-78+3022_-78+3024dup	ENSP00000465416.1:n.-78+3022_-78+3024dup
ENST00000590107.5:c.*132+3022_*132+3024dup	ENSP00000466059.1:n.*132+3022_*132+3024dup
ENST00000590138.1:c.*93+3022_*93+3024dup	ENSP00000465938.1:n.*93+3022_*93+3024dup
NM_014214.2:c.490+3022_490+3024dup	NP_055029.1:n.490+3022_490+3024dup
XM_011525659.1:c.442+3022_442+3024dup	XP_011523961.1:n.442+3022_442+3024dup
XM_011525660.1:c.418+3022_418+3024dup	XP_011523962.1:n.418+3022_418+3024dup
XM_011525661.1:c.130+3022_130+3024dup	XP_011523963.1:n.130+3022_130+3024dup
XM_011525659.3:c.442+3022_442+3024dup	XP_011523961.1:n.442+3022_442+3024dup
XM_011525661.3:c.130+3022_130+3024dup	XP_011523963.1:n.130+3022_130+3024dup
NM_014214.3:c.490+3022_490+3024dup MANE Select	NP_055029.1:n.490+3022_490+3024dup