Canonical Allele Identifier: CA776175803

Gene: IMPA2

Linked Data

• dbSNP Id: rs1193028520
• gnomAD v3: 18-12017496-G-T
• gnomAD v4: 18-12017496-G-T
• MyVariant Identifiers: chr18:g.12017495G>T (hg19) ; chr18:g.12017496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12017496G>T , CM000680.2:g.12017496G>T	GRCh38
NC_000018.9:g.12017495G>T , CM000680.1:g.12017495G>T	GRCh37
NC_000018.8:g.12007495G>T	NCBI36
NG_028104.1:g.41041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269159.8:c.490+3123G>T MANE Select	ENSP00000269159.3:n.490+3123G>T
ENST00000269159.7:c.490+3123G>T	ENSP00000269159.3:n.490+3123G>T
ENST00000383376.9:c.*492-118G>T	ENSP00000372867.4:n.*492-118G>T
ENST00000586230.1:c.212+3123G>T
ENST00000588167.1:n.243+3123G>T
ENST00000588752.5:n.575+3123G>T
ENST00000588927.5:c.-78+3123G>T	ENSP00000464767.1:n.-78+3123G>T
ENST00000589238.5:c.-78+3123G>T	ENSP00000465416.1:n.-78+3123G>T
ENST00000590107.5:c.*132+3123G>T	ENSP00000466059.1:n.*132+3123G>T
ENST00000590138.1:c.*93+3123G>T	ENSP00000465938.1:n.*93+3123G>T
NM_014214.2:c.490+3123G>T	NP_055029.1:n.490+3123G>T
XM_011525659.1:c.442+3123G>T	XP_011523961.1:n.442+3123G>T
XM_011525660.1:c.418+3123G>T	XP_011523962.1:n.418+3123G>T
XM_011525661.1:c.130+3123G>T	XP_011523963.1:n.130+3123G>T
XM_011525659.3:c.442+3123G>T	XP_011523961.1:n.442+3123G>T
XM_011525661.3:c.130+3123G>T	XP_011523963.1:n.130+3123G>T
NM_014214.3:c.490+3123G>T MANE Select	NP_055029.1:n.490+3123G>T