Canonical Allele Identifier: CA296068094

Gene: IMPA2

Linked Data

• dbSNP Id: rs900578058
• gnomAD v2: 18-12017334-C-A
• gnomAD v3: 18-12017335-C-A
• gnomAD v4: 18-12017335-C-A
• MyVariant Identifiers: chr18:g.12017334C>A (hg19) ; chr18:g.12017335C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12017335C>A , CM000680.2:g.12017335C>A	GRCh38
NC_000018.9:g.12017334C>A , CM000680.1:g.12017334C>A	GRCh37
NC_000018.8:g.12007334C>A	NCBI36
NG_028104.1:g.40880C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269159.8:c.490+2962C>A MANE Select	ENSP00000269159.3:n.490+2962C>A
ENST00000269159.7:c.490+2962C>A	ENSP00000269159.3:n.490+2962C>A
ENST00000383376.9:c.*492-279C>A	ENSP00000372867.4:n.*492-279C>A
ENST00000586230.1:c.212+2962C>A
ENST00000588167.1:n.243+2962C>A
ENST00000588752.5:n.575+2962C>A
ENST00000588927.5:c.-78+2962C>A	ENSP00000464767.1:n.-78+2962C>A
ENST00000589238.5:c.-78+2962C>A	ENSP00000465416.1:n.-78+2962C>A
ENST00000590107.5:c.*132+2962C>A	ENSP00000466059.1:n.*132+2962C>A
ENST00000590138.1:c.*93+2962C>A	ENSP00000465938.1:n.*93+2962C>A
NM_014214.2:c.490+2962C>A	NP_055029.1:n.490+2962C>A
XM_011525659.1:c.442+2962C>A	XP_011523961.1:n.442+2962C>A
XM_011525660.1:c.418+2962C>A	XP_011523962.1:n.418+2962C>A
XM_011525661.1:c.130+2962C>A	XP_011523963.1:n.130+2962C>A
XM_011525659.3:c.442+2962C>A	XP_011523961.1:n.442+2962C>A
XM_011525661.3:c.130+2962C>A	XP_011523963.1:n.130+2962C>A
NM_014214.3:c.490+2962C>A MANE Select	NP_055029.1:n.490+2962C>A