Canonical Allele Identifier: CA2665685727

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026712-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026715del , CM000665.2:g.49026715del	GRCh38
NC_000003.11:g.49064148del , CM000665.1:g.49064148del	GRCh37
NC_000003.10:g.49039152del	NCBI36
NG_012091.1:g.7730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2833del	ENSP00000515567.1:p.Gln945ArgfsTer6
ENST00000703937.1:c.*1894del	ENSP00000515568.1:n.*1894del
ENST00000326739.9:c.793del MANE Select	ENSP00000321584.4:p.Gln265ArgfsTer6
ENST00000429182.6:c.793del	ENSP00000393525.2:p.Gln265ArgfsTer6
ENST00000442157.2:c.718del	ENSP00000403502.2:p.Gln240ArgfsTer6
ENST00000462980.2:n.1308del
ENST00000472328.2:n.859del
ENST00000491610.2:n.753del
ENST00000676607.1:n.1089del
ENST00000676627.1:n.1523del
ENST00000676708.1:n.2073del
ENST00000676864.1:n.1942del
ENST00000677010.1:c.829del	ENSP00000503089.1:p.Gln277ArgfsTer6
ENST00000677108.1:n.2699del
ENST00000677168.1:n.1265del
ENST00000677185.1:n.1356del
ENST00000677205.1:n.1577del
ENST00000677344.1:n.2067del
ENST00000677480.1:c.*470del	ENSP00000504378.1:n.*470del
ENST00000677519.1:n.1503del
ENST00000677593.1:n.1349del
ENST00000677740.1:n.2298del
ENST00000677991.1:n.1966del
ENST00000678001.1:n.1286del
ENST00000678085.1:n.1349del
ENST00000678177.1:n.2642del
ENST00000678603.1:n.1871del
ENST00000678724.1:c.718del	ENSP00000503874.1:p.Gln240ArgfsTer6
ENST00000678920.1:n.951del
ENST00000679019.1:n.1563del
ENST00000679117.1:c.*608del	ENSP00000503240.1:n.*608del
ENST00000679339.1:n.1634del
ENST00000326739.8:c.793del	ENSP00000321584.4:p.Gln265ArgfsTer6
ENST00000429182.5:c.587del
ENST00000442157.1:c.718del	ENSP00000403502.1:p.Gln240ArgfsTer6
ENST00000462980.1:n.695del
ENST00000491610.1:n.753del
NM_000884.2:c.793del	NP_000875.2:p.Gln265ArgfsTer6
XM_006713128.2:c.1003del	XP_006713191.1:p.Gln335ArgfsTer6
XM_006713128.3:c.1003del	XP_006713191.1:p.Gln335ArgfsTer6
XM_017006349.1:c.928del	XP_016861838.1:p.Gln310ArgfsTer6
XM_017006350.1:c.928del	XP_016861839.1:p.Gln310ArgfsTer6
NM_000884.3:c.793del MANE Select	NP_000875.2:p.Gln265ArgfsTer6