Canonical Allele Identifier: CA352739875
Gene: IMPDH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026704C>A , CM000665.2:g.49026704C>A GRCh38
NC_000003.11:g.49064137C>A , CM000665.1:g.49064137C>A GRCh37
NC_000003.10:g.49039141C>A NCBI36
NG_012091.1:g.7739G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2842G>T ENSP00000515567.1:p.Val948Leu
ENST00000703937.1:c.*1903G>T ENSP00000515568.1:n.*1903G>T
ENST00000326739.9:c.802G>T MANE Select ENSP00000321584.4:p.Val268Leu
ENST00000429182.6:c.802G>T ENSP00000393525.2:p.Val268Leu
ENST00000442157.2:c.727G>T ENSP00000403502.2:p.Val243Leu
ENST00000462980.2:n.1317G>T
ENST00000472328.2:n.868G>T
ENST00000491610.2:n.762G>T
ENST00000676607.1:n.1098G>T
ENST00000676627.1:n.1532G>T
ENST00000676708.1:n.2082G>T
ENST00000676864.1:n.1951G>T
ENST00000677010.1:c.838G>T ENSP00000503089.1:p.Val280Leu
ENST00000677108.1:n.2708G>T
ENST00000677168.1:n.1274G>T
ENST00000677185.1:n.1365G>T
ENST00000677205.1:n.1586G>T
ENST00000677344.1:n.2076G>T
ENST00000677480.1:c.*479G>T ENSP00000504378.1:n.*479G>T
ENST00000677519.1:n.1512G>T
ENST00000677593.1:n.1358G>T
ENST00000677740.1:n.2307G>T
ENST00000677991.1:n.1975G>T
ENST00000678001.1:n.1295G>T
ENST00000678085.1:n.1358G>T
ENST00000678177.1:n.2651G>T
ENST00000678603.1:n.1880G>T
ENST00000678724.1:c.727G>T ENSP00000503874.1:p.Val243Leu
ENST00000678920.1:n.960G>T
ENST00000679019.1:n.1572G>T
ENST00000679117.1:c.*617G>T ENSP00000503240.1:n.*617G>T
ENST00000679339.1:n.1643G>T
ENST00000326739.8:c.802G>T ENSP00000321584.4:p.Val268Leu
ENST00000429182.5:c.596G>T
ENST00000442157.1:c.727G>T ENSP00000403502.1:p.Val243Leu
ENST00000462980.1:n.704G>T
ENST00000491610.1:n.762G>T
NM_000884.2:c.802G>T NP_000875.2:p.Val268Leu
XM_006713128.2:c.1012G>T XP_006713191.1:p.Val338Leu
XM_006713128.3:c.1012G>T XP_006713191.1:p.Val338Leu
XM_017006349.1:c.937G>T XP_016861838.1:p.Val313Leu
XM_017006350.1:c.937G>T XP_016861839.1:p.Val313Leu
NM_000884.3:c.802G>T MANE Select NP_000875.2:p.Val268Leu