Canonical Allele Identifier: CA296068258

Gene: IMPA2

Linked Data

• dbSNP Id: rs547529219
• gnomAD v2: 18-12017482-G-A
• gnomAD v3: 18-12017483-G-A
• gnomAD v4: 18-12017483-G-A
• MyVariant Identifiers: chr18:g.12017482G>A (hg19) ; chr18:g.12017483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12017483G>A , CM000680.2:g.12017483G>A	GRCh38
NC_000018.9:g.12017482G>A , CM000680.1:g.12017482G>A	GRCh37
NC_000018.8:g.12007482G>A	NCBI36
NG_028104.1:g.41028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269159.8:c.490+3110G>A MANE Select	ENSP00000269159.3:n.490+3110G>A
ENST00000269159.7:c.490+3110G>A	ENSP00000269159.3:n.490+3110G>A
ENST00000383376.9:c.*492-131G>A	ENSP00000372867.4:n.*492-131G>A
ENST00000586230.1:c.212+3110G>A
ENST00000588167.1:n.243+3110G>A
ENST00000588752.5:n.575+3110G>A
ENST00000588927.5:c.-78+3110G>A	ENSP00000464767.1:n.-78+3110G>A
ENST00000589238.5:c.-78+3110G>A	ENSP00000465416.1:n.-78+3110G>A
ENST00000590107.5:c.*132+3110G>A	ENSP00000466059.1:n.*132+3110G>A
ENST00000590138.1:c.*93+3110G>A	ENSP00000465938.1:n.*93+3110G>A
NM_014214.2:c.490+3110G>A	NP_055029.1:n.490+3110G>A
XM_011525659.1:c.442+3110G>A	XP_011523961.1:n.442+3110G>A
XM_011525660.1:c.418+3110G>A	XP_011523962.1:n.418+3110G>A
XM_011525661.1:c.130+3110G>A	XP_011523963.1:n.130+3110G>A
XM_011525659.3:c.442+3110G>A	XP_011523961.1:n.442+3110G>A
XM_011525661.3:c.130+3110G>A	XP_011523963.1:n.130+3110G>A
NM_014214.3:c.490+3110G>A MANE Select	NP_055029.1:n.490+3110G>A