Canonical Allele Identifier: CA987892533

Gene: IMPA2

Linked Data

• dbSNP Id: rs1906690117
• gnomAD v3: 18-11987170-G-C
• gnomAD v4: 18-11987170-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11987170G>C , CM000680.2:g.11987170G>C	GRCh38
NC_000018.9:g.11987169G>C , CM000680.1:g.11987169G>C	GRCh37
NC_000018.8:g.11977169G>C	NCBI36
NG_028104.1:g.10715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269159.8:c.96+5405G>C MANE Select	ENSP00000269159.3:n.96+5405G>C
ENST00000269159.7:c.96+5405G>C	ENSP00000269159.3:n.96+5405G>C
ENST00000383376.9:c.96+5405G>C	ENSP00000372867.4:n.96+5405G>C
ENST00000588752.5:n.181+5965G>C
ENST00000588927.5:c.-464+5477G>C	ENSP00000464767.1:n.-464+5477G>C
ENST00000589238.5:c.-472+6040G>C	ENSP00000465416.1:n.-472+6040G>C
ENST00000590107.5:c.96+5405G>C	ENSP00000466059.1:n.96+5405G>C
ENST00000590138.1:c.96+5405G>C	ENSP00000465938.1:n.96+5405G>C
ENST00000625802.2:c.96+5405G>C	ENSP00000486461.1:n.96+5405G>C
NM_014214.2:c.96+5405G>C	NP_055029.1:n.96+5405G>C
XM_011525661.1:c.-399+5405G>C	XP_011523963.1:n.-399+5405G>C
XM_011525661.3:c.-399+5405G>C	XP_011523963.1:n.-399+5405G>C
NM_014214.3:c.96+5405G>C MANE Select	NP_055029.1:n.96+5405G>C