Canonical Allele Identifier: CA2577592929

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026735-C-CACAAGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026735_49026736insACAAGTA , CM000665.2:g.49026735_49026736insACAAGTA	GRCh38
NC_000003.11:g.49064168_49064169insACAAGTA , CM000665.1:g.49064168_49064169insACAAGTA	GRCh37
NC_000003.10:g.49039172_49039173insACAAGTA	NCBI36
NG_012091.1:g.7707_7708insTACTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2810_2811insTACTTGT	ENSP00000515567.1:p.Lys937AsnfsTer5
ENST00000703937.1:c.*1871_*1872insTACTTGT	ENSP00000515568.1:n.*1871_*1872insTACTTGT
ENST00000326739.9:c.770_771insTACTTGT MANE Select	ENSP00000321584.4:p.Lys257AsnfsTer5
ENST00000429182.6:c.770_771insTACTTGT	ENSP00000393525.2:p.Lys257AsnfsTer5
ENST00000442157.2:c.695_696insTACTTGT	ENSP00000403502.2:p.Lys232AsnfsTer5
ENST00000462980.2:n.1285_1286insTACTTGT
ENST00000472328.2:n.836_837insTACTTGT
ENST00000491610.2:n.730_731insTACTTGT
ENST00000676607.1:n.1066_1067insTACTTGT
ENST00000676627.1:n.1500_1501insTACTTGT
ENST00000676708.1:n.2050_2051insTACTTGT
ENST00000676864.1:n.1919_1920insTACTTGT
ENST00000677010.1:c.806_807insTACTTGT	ENSP00000503089.1:p.Lys269AsnfsTer5
ENST00000677108.1:n.2676_2677insTACTTGT
ENST00000677168.1:n.1242_1243insTACTTGT
ENST00000677185.1:n.1333_1334insTACTTGT
ENST00000677205.1:n.1554_1555insTACTTGT
ENST00000677344.1:n.2044_2045insTACTTGT
ENST00000677480.1:c.*447_*448insTACTTGT	ENSP00000504378.1:n.*447_*448insTACTTGT
ENST00000677519.1:n.1480_1481insTACTTGT
ENST00000677593.1:n.1326_1327insTACTTGT
ENST00000677740.1:n.2275_2276insTACTTGT
ENST00000677991.1:n.1943_1944insTACTTGT
ENST00000678001.1:n.1263_1264insTACTTGT
ENST00000678085.1:n.1326_1327insTACTTGT
ENST00000678177.1:n.2619_2620insTACTTGT
ENST00000678603.1:n.1848_1849insTACTTGT
ENST00000678724.1:c.695_696insTACTTGT	ENSP00000503874.1:p.Lys232AsnfsTer5
ENST00000678920.1:n.928_929insTACTTGT
ENST00000679019.1:n.1540_1541insTACTTGT
ENST00000679117.1:c.*585_*586insTACTTGT	ENSP00000503240.1:n.*585_*586insTACTTGT
ENST00000679339.1:n.1611_1612insTACTTGT
ENST00000326739.8:c.770_771insTACTTGT	ENSP00000321584.4:p.Lys257AsnfsTer5
ENST00000429182.5:c.564_565insTACTTGT
ENST00000442157.1:c.695_696insTACTTGT	ENSP00000403502.1:p.Lys232AsnfsTer5
ENST00000462980.1:n.672_673insTACTTGT
ENST00000491610.1:n.730_731insTACTTGT
NM_000884.2:c.770_771insTACTTGT	NP_000875.2:p.Lys257AsnfsTer5
XM_006713128.2:c.980_981insTACTTGT	XP_006713191.1:p.Lys327AsnfsTer5
XM_006713128.3:c.980_981insTACTTGT	XP_006713191.1:p.Lys327AsnfsTer5
XM_017006349.1:c.905_906insTACTTGT	XP_016861838.1:p.Lys302AsnfsTer5
XM_017006350.1:c.905_906insTACTTGT	XP_016861839.1:p.Lys302AsnfsTer5
NM_000884.3:c.770_771insTACTTGT MANE Select	NP_000875.2:p.Lys257AsnfsTer5