Canonical Allele Identifier: CA352740141
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026746-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026746C>T , CM000665.2:g.49026746C>T GRCh38
NC_000003.11:g.49064179C>T , CM000665.1:g.49064179C>T GRCh37
NC_000003.10:g.49039183C>T NCBI36
NG_012091.1:g.7697G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2800G>A ENSP00000515567.1:p.Glu934Lys
ENST00000703937.1:c.*1861G>A ENSP00000515568.1:n.*1861G>A
ENST00000326739.9:c.760G>A MANE Select ENSP00000321584.4:p.Glu254Lys
ENST00000429182.6:c.760G>A ENSP00000393525.2:p.Glu254Lys
ENST00000442157.2:c.685G>A ENSP00000403502.2:p.Glu229Lys
ENST00000462980.2:n.1275G>A
ENST00000472328.2:n.826G>A
ENST00000491610.2:n.720G>A
ENST00000676607.1:n.1056G>A
ENST00000676627.1:n.1490G>A
ENST00000676708.1:n.2040G>A
ENST00000676864.1:n.1909G>A
ENST00000677010.1:c.796G>A ENSP00000503089.1:p.Glu266Lys
ENST00000677108.1:n.2666G>A
ENST00000677168.1:n.1232G>A
ENST00000677185.1:n.1323G>A
ENST00000677205.1:n.1544G>A
ENST00000677344.1:n.2034G>A
ENST00000677480.1:c.*437G>A ENSP00000504378.1:n.*437G>A
ENST00000677519.1:n.1470G>A
ENST00000677593.1:n.1316G>A
ENST00000677740.1:n.2265G>A
ENST00000677991.1:n.1933G>A
ENST00000678001.1:n.1253G>A
ENST00000678085.1:n.1316G>A
ENST00000678177.1:n.2609G>A
ENST00000678603.1:n.1838G>A
ENST00000678724.1:c.685G>A ENSP00000503874.1:p.Glu229Lys
ENST00000678920.1:n.918G>A
ENST00000679019.1:n.1530G>A
ENST00000679117.1:c.*575G>A ENSP00000503240.1:n.*575G>A
ENST00000679339.1:n.1601G>A
ENST00000326739.8:c.760G>A ENSP00000321584.4:p.Glu254Lys
ENST00000429182.5:c.554G>A
ENST00000442157.1:c.685G>A ENSP00000403502.1:p.Glu229Lys
ENST00000462980.1:n.662G>A
ENST00000491610.1:n.720G>A
NM_000884.2:c.760G>A NP_000875.2:p.Glu254Lys
XM_006713128.2:c.970G>A XP_006713191.1:p.Glu324Lys
XM_006713128.3:c.970G>A XP_006713191.1:p.Glu324Lys
XM_017006349.1:c.895G>A XP_016861838.1:p.Glu299Lys
XM_017006350.1:c.895G>A XP_016861839.1:p.Glu299Lys
NM_000884.3:c.760G>A MANE Select NP_000875.2:p.Glu254Lys