Canonical Allele Identifier: CA2641044290

Gene: IMPA2

Linked Data

• gnomAD v4: 18-12017470-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12017470G>C , CM000680.2:g.12017470G>C	GRCh38
NC_000018.9:g.12017469G>C , CM000680.1:g.12017469G>C	GRCh37
NC_000018.8:g.12007469G>C	NCBI36
NG_028104.1:g.41015G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269159.8:c.490+3097G>C MANE Select	ENSP00000269159.3:n.490+3097G>C
ENST00000269159.7:c.490+3097G>C	ENSP00000269159.3:n.490+3097G>C
ENST00000383376.9:c.*492-144G>C	ENSP00000372867.4:n.*492-144G>C
ENST00000586230.1:c.212+3097G>C
ENST00000588167.1:n.243+3097G>C
ENST00000588752.5:n.575+3097G>C
ENST00000588927.5:c.-78+3097G>C	ENSP00000464767.1:n.-78+3097G>C
ENST00000589238.5:c.-78+3097G>C	ENSP00000465416.1:n.-78+3097G>C
ENST00000590107.5:c.*132+3097G>C	ENSP00000466059.1:n.*132+3097G>C
ENST00000590138.1:c.*93+3097G>C	ENSP00000465938.1:n.*93+3097G>C
NM_014214.2:c.490+3097G>C	NP_055029.1:n.490+3097G>C
XM_011525659.1:c.442+3097G>C	XP_011523961.1:n.442+3097G>C
XM_011525660.1:c.418+3097G>C	XP_011523962.1:n.418+3097G>C
XM_011525661.1:c.130+3097G>C	XP_011523963.1:n.130+3097G>C
XM_011525659.3:c.442+3097G>C	XP_011523961.1:n.442+3097G>C
XM_011525661.3:c.130+3097G>C	XP_011523963.1:n.130+3097G>C
NM_014214.3:c.490+3097G>C MANE Select	NP_055029.1:n.490+3097G>C