Canonical Allele Identifier: CA433554467
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs2093202363
gnomAD v4: 3-49026973-C-T
MyVariant Identifiers: chr3:g.49064406C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026973C>T , CM000665.2:g.49026973C>T GRCh38
NC_000003.11:g.49064406C>T , CM000665.1:g.49064406C>T GRCh37
NC_000003.10:g.49039410C>T NCBI36
NG_012091.1:g.7470G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2646G>A ENSP00000515567.1:p.Gln882=
ENST00000703937.1:c.*1707G>A ENSP00000515568.1:n.*1707G>A
ENST00000326739.9:c.606G>A MANE Select ENSP00000321584.4:p.Gln202=
ENST00000429182.6:c.606G>A ENSP00000393525.2:p.Gln202=
ENST00000442157.2:c.531G>A ENSP00000403502.2:p.Gln177=
ENST00000462980.2:n.1121G>A
ENST00000472328.2:n.672G>A
ENST00000491610.2:n.493G>A
ENST00000676607.1:n.902G>A
ENST00000676627.1:n.1336G>A
ENST00000676708.1:n.1813G>A
ENST00000676864.1:n.1682G>A
ENST00000677010.1:c.642G>A ENSP00000503089.1:p.Gln214=
ENST00000677108.1:n.2439G>A
ENST00000677168.1:n.1078G>A
ENST00000677185.1:n.1096G>A
ENST00000677205.1:n.1317G>A
ENST00000677344.1:n.1807G>A
ENST00000677480.1:c.*283G>A ENSP00000504378.1:n.*283G>A
ENST00000677519.1:n.1316G>A
ENST00000677593.1:n.1089G>A
ENST00000677740.1:n.2038G>A
ENST00000677991.1:n.1779G>A
ENST00000678001.1:n.1099G>A
ENST00000678085.1:n.1089G>A
ENST00000678177.1:n.2382G>A
ENST00000678603.1:n.1684G>A
ENST00000678724.1:c.531G>A ENSP00000503874.1:p.Gln177=
ENST00000678920.1:n.764G>A
ENST00000679019.1:n.1303G>A
ENST00000679117.1:c.*421G>A ENSP00000503240.1:n.*421G>A
ENST00000679339.1:n.1374G>A
ENST00000326739.8:c.606G>A ENSP00000321584.4:p.Gln202=
ENST00000429182.5:c.400G>A
ENST00000442157.1:c.531G>A ENSP00000403502.1:p.Gln177=
ENST00000462980.1:n.508G>A
ENST00000491610.1:n.493G>A
NM_000884.2:c.606G>A NP_000875.2:p.Gln202=
XM_006713128.2:c.816G>A XP_006713191.1:p.Gln272=
XM_006713128.3:c.816G>A XP_006713191.1:p.Gln272=
XM_017006349.1:c.741G>A XP_016861838.1:p.Gln247=
XM_017006350.1:c.741G>A XP_016861839.1:p.Gln247=
NM_000884.3:c.606G>A MANE Select NP_000875.2:p.Gln202=