Canonical Allele Identifier: CA433629691

Gene: IMPDH2

Linked Data

• dbSNP Id: rs1559916423
• gnomAD v2: 3-49064288-C-T
• gnomAD v4: 3-49026855-C-T
• MyVariant Identifiers: chr3:g.49064288C>T (hg19) ; chr3:g.49064288_49064291delinsTTCA (hg19) ; chr3:g.49026855_49026858delinsTTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026855C>T , CM000665.2:g.49026855C>T	GRCh38
NC_000003.11:g.49064288C>T , CM000665.1:g.49064288C>T	GRCh37
NC_000003.10:g.49039292C>T	NCBI36
NG_012091.1:g.7588G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2691G>A	ENSP00000515567.1:p.Glu897=
ENST00000703937.1:c.*1752G>A	ENSP00000515568.1:n.*1752G>A
ENST00000326739.9:c.651G>A MANE Select	ENSP00000321584.4:p.Glu217=
ENST00000429182.6:c.651G>A	ENSP00000393525.2:p.Glu217=
ENST00000442157.2:c.576G>A	ENSP00000403502.2:p.Glu192=
ENST00000462980.2:n.1166G>A
ENST00000472328.2:n.717G>A
ENST00000491610.2:n.611G>A
ENST00000676607.1:n.947G>A
ENST00000676627.1:n.1381G>A
ENST00000676708.1:n.1931G>A
ENST00000676864.1:n.1800G>A
ENST00000677010.1:c.687G>A	ENSP00000503089.1:p.Glu229=
ENST00000677108.1:n.2557G>A
ENST00000677168.1:n.1123G>A
ENST00000677185.1:n.1214G>A
ENST00000677205.1:n.1435G>A
ENST00000677344.1:n.1925G>A
ENST00000677480.1:c.*328G>A	ENSP00000504378.1:n.*328G>A
ENST00000677519.1:n.1361G>A
ENST00000677593.1:n.1207G>A
ENST00000677740.1:n.2156G>A
ENST00000677991.1:n.1824G>A
ENST00000678001.1:n.1144G>A
ENST00000678085.1:n.1207G>A
ENST00000678177.1:n.2500G>A
ENST00000678603.1:n.1729G>A
ENST00000678724.1:c.576G>A	ENSP00000503874.1:p.Glu192=
ENST00000678920.1:n.809G>A
ENST00000679019.1:n.1421G>A
ENST00000679117.1:c.*466G>A	ENSP00000503240.1:n.*466G>A
ENST00000679339.1:n.1492G>A
ENST00000326739.8:c.651G>A	ENSP00000321584.4:p.Glu217=
ENST00000429182.5:c.445G>A
ENST00000442157.1:c.576G>A	ENSP00000403502.1:p.Glu192=
ENST00000462980.1:n.553G>A
ENST00000491610.1:n.611G>A
NM_000884.2:c.651G>A	NP_000875.2:p.Glu217=
XM_006713128.2:c.861G>A	XP_006713191.1:p.Glu287=
XM_006713128.3:c.861G>A	XP_006713191.1:p.Glu287=
XM_017006349.1:c.786G>A	XP_016861838.1:p.Glu262=
XM_017006350.1:c.786G>A	XP_016861839.1:p.Glu262=
NM_000884.3:c.651G>A MANE Select	NP_000875.2:p.Glu217=