Canonical Allele Identifier: CA2665685799

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026861-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026864_49026866del , CM000665.2:g.49026864_49026866del	GRCh38
NC_000003.11:g.49064297_49064299del , CM000665.1:g.49064297_49064299del	GRCh37
NC_000003.10:g.49039301_49039303del	NCBI36
NG_012091.1:g.7579_7581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2682_2684del	ENSP00000515567.1:p.Glu894del
ENST00000703937.1:c.*1743_*1745del	ENSP00000515568.1:n.*1743_*1745del
ENST00000326739.9:c.642_644del MANE Select	ENSP00000321584.4:p.Glu214del
ENST00000429182.6:c.642_644del	ENSP00000393525.2:p.Glu214del
ENST00000442157.2:c.567_569del	ENSP00000403502.2:p.Glu189del
ENST00000462980.2:n.1157_1159del
ENST00000472328.2:n.708_710del
ENST00000491610.2:n.602_604del
ENST00000676607.1:n.938_940del
ENST00000676627.1:n.1372_1374del
ENST00000676708.1:n.1922_1924del
ENST00000676864.1:n.1791_1793del
ENST00000677010.1:c.678_680del	ENSP00000503089.1:p.Glu226del
ENST00000677108.1:n.2548_2550del
ENST00000677168.1:n.1114_1116del
ENST00000677185.1:n.1205_1207del
ENST00000677205.1:n.1426_1428del
ENST00000677344.1:n.1916_1918del
ENST00000677480.1:c.*319_*321del	ENSP00000504378.1:n.*319_*321del
ENST00000677519.1:n.1352_1354del
ENST00000677593.1:n.1198_1200del
ENST00000677740.1:n.2147_2149del
ENST00000677991.1:n.1815_1817del
ENST00000678001.1:n.1135_1137del
ENST00000678085.1:n.1198_1200del
ENST00000678177.1:n.2491_2493del
ENST00000678603.1:n.1720_1722del
ENST00000678724.1:c.567_569del	ENSP00000503874.1:p.Glu189del
ENST00000678920.1:n.800_802del
ENST00000679019.1:n.1412_1414del
ENST00000679117.1:c.*457_*459del	ENSP00000503240.1:n.*457_*459del
ENST00000679339.1:n.1483_1485del
ENST00000326739.8:c.642_644del	ENSP00000321584.4:p.Glu214del
ENST00000429182.5:c.436_438del
ENST00000442157.1:c.567_569del	ENSP00000403502.1:p.Glu189del
ENST00000462980.1:n.544_546del
ENST00000491610.1:n.602_604del
NM_000884.2:c.642_644del	NP_000875.2:p.Glu214del
XM_006713128.2:c.852_854del	XP_006713191.1:p.Glu284del
XM_006713128.3:c.852_854del	XP_006713191.1:p.Glu284del
XM_017006349.1:c.777_779del	XP_016861838.1:p.Glu259del
XM_017006350.1:c.777_779del	XP_016861839.1:p.Glu259del
NM_000884.3:c.642_644del MANE Select	NP_000875.2:p.Glu214del