Canonical Allele Identifier: CA2285050354

Gene: IMPA2

Linked Data

• dbSNP Id: rs1907610166

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12017474_12017475del , CM000680.2:g.12017474_12017475del	GRCh38
NC_000018.9:g.12017473_12017474del , CM000680.1:g.12017473_12017474del	GRCh37
NC_000018.8:g.12007473_12007474del	NCBI36
NG_028104.1:g.41019_41020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269159.8:c.490+3101_490+3102del MANE Select	ENSP00000269159.3:n.490+3101_490+3102del
ENST00000269159.7:c.490+3101_490+3102del	ENSP00000269159.3:n.490+3101_490+3102del
ENST00000383376.9:c.*492-140_*492-139del	ENSP00000372867.4:n.*492-140_*492-139del
ENST00000586230.1:c.212+3101_212+3102del
ENST00000588167.1:n.243+3101_243+3102del
ENST00000588752.5:n.575+3101_575+3102del
ENST00000588927.5:c.-78+3101_-78+3102del	ENSP00000464767.1:n.-78+3101_-78+3102del
ENST00000589238.5:c.-78+3101_-78+3102del	ENSP00000465416.1:n.-78+3101_-78+3102del
ENST00000590107.5:c.*132+3101_*132+3102del	ENSP00000466059.1:n.*132+3101_*132+3102del
ENST00000590138.1:c.*93+3101_*93+3102del	ENSP00000465938.1:n.*93+3101_*93+3102del
NM_014214.2:c.490+3101_490+3102del	NP_055029.1:n.490+3101_490+3102del
XM_011525659.1:c.442+3101_442+3102del	XP_011523961.1:n.442+3101_442+3102del
XM_011525660.1:c.418+3101_418+3102del	XP_011523962.1:n.418+3101_418+3102del
XM_011525661.1:c.130+3101_130+3102del	XP_011523963.1:n.130+3101_130+3102del
XM_011525659.3:c.442+3101_442+3102del	XP_011523961.1:n.442+3101_442+3102del
XM_011525661.3:c.130+3101_130+3102del	XP_011523963.1:n.130+3101_130+3102del
NM_014214.3:c.490+3101_490+3102del MANE Select	NP_055029.1:n.490+3101_490+3102del