Canonical Allele Identifier: CA1363291749

Gene: IMPDH2

Linked Data

• dbSNP Id: rs2093202320

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026963_49026969del , CM000665.2:g.49026963_49026969del	GRCh38
NC_000003.11:g.49064396_49064402del , CM000665.1:g.49064396_49064402del	GRCh37
NC_000003.10:g.49039400_49039406del	NCBI36
NG_012091.1:g.7476_7482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2652_2658del	ENSP00000515567.1:p.Ser884ArgfsTer7
ENST00000703937.1:c.*1713_*1719del	ENSP00000515568.1:n.*1713_*1719del
ENST00000326739.9:c.612_618del MANE Select	ENSP00000321584.4:p.Ser204ArgfsTer7
ENST00000429182.6:c.612_618del	ENSP00000393525.2:p.Ser204ArgfsTer7
ENST00000442157.2:c.537_543del	ENSP00000403502.2:p.Ser179ArgfsTer7
ENST00000462980.2:n.1127_1133del
ENST00000472328.2:n.678_684del
ENST00000491610.2:n.499_505del
ENST00000676607.1:n.908_914del
ENST00000676627.1:n.1342_1348del
ENST00000676708.1:n.1819_1825del
ENST00000676864.1:n.1688_1694del
ENST00000677010.1:c.648_654del	ENSP00000503089.1:p.Ser216ArgfsTer7
ENST00000677108.1:n.2445_2451del
ENST00000677168.1:n.1084_1090del
ENST00000677185.1:n.1102_1108del
ENST00000677205.1:n.1323_1329del
ENST00000677344.1:n.1813_1819del
ENST00000677480.1:c.*289_*295del	ENSP00000504378.1:n.*289_*295del
ENST00000677519.1:n.1322_1328del
ENST00000677593.1:n.1095_1101del
ENST00000677740.1:n.2044_2050del
ENST00000677991.1:n.1785_1791del
ENST00000678001.1:n.1105_1111del
ENST00000678085.1:n.1095_1101del
ENST00000678177.1:n.2388_2394del
ENST00000678603.1:n.1690_1696del
ENST00000678724.1:c.537_543del	ENSP00000503874.1:p.Ser179ArgfsTer7
ENST00000678920.1:n.770_776del
ENST00000679019.1:n.1309_1315del
ENST00000679117.1:c.*427_*433del	ENSP00000503240.1:n.*427_*433del
ENST00000679339.1:n.1380_1386del
ENST00000326739.8:c.612_618del	ENSP00000321584.4:p.Ser204ArgfsTer7
ENST00000429182.5:c.406_412del
ENST00000442157.1:c.537_543del	ENSP00000403502.1:p.Ser179ArgfsTer7
ENST00000462980.1:n.514_520del
ENST00000491610.1:n.499_505del
NM_000884.2:c.612_618del	NP_000875.2:p.Ser204ArgfsTer7
XM_006713128.2:c.822_828del	XP_006713191.1:p.Ser274ArgfsTer7
XM_006713128.3:c.822_828del	XP_006713191.1:p.Ser274ArgfsTer7
XM_017006349.1:c.747_753del	XP_016861838.1:p.Ser249ArgfsTer7
XM_017006350.1:c.747_753del	XP_016861839.1:p.Ser249ArgfsTer7
NM_000884.3:c.612_618del MANE Select	NP_000875.2:p.Ser204ArgfsTer7