Canonical Allele Identifier: CA2641044309

Gene: IMPA2

Linked Data

• gnomAD v4: 18-12017511-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12017511C>A , CM000680.2:g.12017511C>A	GRCh38
NC_000018.9:g.12017510C>A , CM000680.1:g.12017510C>A	GRCh37
NC_000018.8:g.12007510C>A	NCBI36
NG_028104.1:g.41056C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269159.8:c.490+3138C>A MANE Select	ENSP00000269159.3:n.490+3138C>A
ENST00000269159.7:c.490+3138C>A	ENSP00000269159.3:n.490+3138C>A
ENST00000383376.9:c.*492-103C>A	ENSP00000372867.4:n.*492-103C>A
ENST00000586230.1:c.212+3138C>A
ENST00000588167.1:n.243+3138C>A
ENST00000588752.5:n.575+3138C>A
ENST00000588927.5:c.-78+3138C>A	ENSP00000464767.1:n.-78+3138C>A
ENST00000589238.5:c.-78+3138C>A	ENSP00000465416.1:n.-78+3138C>A
ENST00000590107.5:c.*132+3138C>A	ENSP00000466059.1:n.*132+3138C>A
ENST00000590138.1:c.*93+3138C>A	ENSP00000465938.1:n.*93+3138C>A
NM_014214.2:c.490+3138C>A	NP_055029.1:n.490+3138C>A
XM_011525659.1:c.442+3138C>A	XP_011523961.1:n.442+3138C>A
XM_011525660.1:c.418+3138C>A	XP_011523962.1:n.418+3138C>A
XM_011525661.1:c.130+3138C>A	XP_011523963.1:n.130+3138C>A
XM_011525659.3:c.442+3138C>A	XP_011523961.1:n.442+3138C>A
XM_011525661.3:c.130+3138C>A	XP_011523963.1:n.130+3138C>A
NM_014214.3:c.490+3138C>A MANE Select	NP_055029.1:n.490+3138C>A