Canonical Allele Identifier: CA1363291659
Gene: IMPDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026763_49026764delinsGC , CM000665.2:g.49026763_49026764delinsGC GRCh38
NC_000003.11:g.49064196_49064197delinsGC , CM000665.1:g.49064196_49064197delinsGC GRCh37
NC_000003.10:g.49039200_49039201delinsGC NCBI36
NG_012091.1:g.7679_7680delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2782_2783delinsGC ENSP00000515567.1:p.Ala928=
ENST00000703937.1:c.*1843_*1844delinsGC ENSP00000515568.1:n.*1843_*1844delinsGC
ENST00000326739.9:c.742_743delinsGC MANE Select ENSP00000321584.4:p.Ala248=
ENST00000429182.6:c.742_743delinsGC ENSP00000393525.2:p.Ala248=
ENST00000442157.2:c.667_668delinsGC ENSP00000403502.2:p.Ala223=
ENST00000462980.2:n.1257_1258delinsGC
ENST00000472328.2:n.808_809delinsGC
ENST00000491610.2:n.702_703delinsGC
ENST00000676607.1:n.1038_1039delinsGC
ENST00000676627.1:n.1472_1473delinsGC
ENST00000676708.1:n.2022_2023delinsGC
ENST00000676864.1:n.1891_1892delinsGC
ENST00000677010.1:c.778_779delinsGC ENSP00000503089.1:p.Ala260=
ENST00000677108.1:n.2648_2649delinsGC
ENST00000677168.1:n.1214_1215delinsGC
ENST00000677185.1:n.1305_1306delinsGC
ENST00000677205.1:n.1526_1527delinsGC
ENST00000677344.1:n.2016_2017delinsGC
ENST00000677480.1:c.*419_*420delinsGC ENSP00000504378.1:n.*419_*420delinsGC
ENST00000677519.1:n.1452_1453delinsGC
ENST00000677593.1:n.1298_1299delinsGC
ENST00000677740.1:n.2247_2248delinsGC
ENST00000677991.1:n.1915_1916delinsGC
ENST00000678001.1:n.1235_1236delinsGC
ENST00000678085.1:n.1298_1299delinsGC
ENST00000678177.1:n.2591_2592delinsGC
ENST00000678603.1:n.1820_1821delinsGC
ENST00000678724.1:c.667_668delinsGC ENSP00000503874.1:p.Ala223=
ENST00000678920.1:n.900_901delinsGC
ENST00000679019.1:n.1512_1513delinsGC
ENST00000679117.1:c.*557_*558delinsGC ENSP00000503240.1:n.*557_*558delinsGC
ENST00000679339.1:n.1583_1584delinsGC
ENST00000326739.8:c.742_743delinsGC ENSP00000321584.4:p.Ala248=
ENST00000429182.5:c.536_537delinsGC
ENST00000442157.1:c.667_668delinsGC ENSP00000403502.1:p.Ala223=
ENST00000462980.1:n.644_645delinsGC
ENST00000491610.1:n.702_703delinsGC
NM_000884.2:c.742_743delinsGC NP_000875.2:p.Ala248=
XM_006713128.2:c.952_953delinsGC XP_006713191.1:p.Ala318=
XM_006713128.3:c.952_953delinsGC XP_006713191.1:p.Ala318=
XM_017006349.1:c.877_878delinsGC XP_016861838.1:p.Ala293=
XM_017006350.1:c.877_878delinsGC XP_016861839.1:p.Ala293=
NM_000884.3:c.742_743delinsGC MANE Select NP_000875.2:p.Ala248=