Canonical Allele Identifier: CA352741153
Gene: IMPDH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026872C>A , CM000665.2:g.49026872C>A GRCh38
NC_000003.11:g.49064305C>A , CM000665.1:g.49064305C>A GRCh37
NC_000003.10:g.49039309C>A NCBI36
NG_012091.1:g.7571G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2674G>T ENSP00000515567.1:p.Val892Leu
ENST00000703937.1:c.*1735G>T ENSP00000515568.1:n.*1735G>T
ENST00000326739.9:c.634G>T MANE Select ENSP00000321584.4:p.Val212Leu
ENST00000429182.6:c.634G>T ENSP00000393525.2:p.Val212Leu
ENST00000442157.2:c.559G>T ENSP00000403502.2:p.Val187Leu
ENST00000462980.2:n.1149G>T
ENST00000472328.2:n.700G>T
ENST00000491610.2:n.594G>T
ENST00000676607.1:n.930G>T
ENST00000676627.1:n.1364G>T
ENST00000676708.1:n.1914G>T
ENST00000676864.1:n.1783G>T
ENST00000677010.1:c.670G>T ENSP00000503089.1:p.Val224Leu
ENST00000677108.1:n.2540G>T
ENST00000677168.1:n.1106G>T
ENST00000677185.1:n.1197G>T
ENST00000677205.1:n.1418G>T
ENST00000677344.1:n.1908G>T
ENST00000677480.1:c.*311G>T ENSP00000504378.1:n.*311G>T
ENST00000677519.1:n.1344G>T
ENST00000677593.1:n.1190G>T
ENST00000677740.1:n.2139G>T
ENST00000677991.1:n.1807G>T
ENST00000678001.1:n.1127G>T
ENST00000678085.1:n.1190G>T
ENST00000678177.1:n.2483G>T
ENST00000678603.1:n.1712G>T
ENST00000678724.1:c.559G>T ENSP00000503874.1:p.Val187Leu
ENST00000678920.1:n.792G>T
ENST00000679019.1:n.1404G>T
ENST00000679117.1:c.*449G>T ENSP00000503240.1:n.*449G>T
ENST00000679339.1:n.1475G>T
ENST00000326739.8:c.634G>T ENSP00000321584.4:p.Val212Leu
ENST00000429182.5:c.428G>T
ENST00000442157.1:c.559G>T ENSP00000403502.1:p.Val187Leu
ENST00000462980.1:n.536G>T
ENST00000491610.1:n.594G>T
NM_000884.2:c.634G>T NP_000875.2:p.Val212Leu
XM_006713128.2:c.844G>T XP_006713191.1:p.Val282Leu
XM_006713128.3:c.844G>T XP_006713191.1:p.Val282Leu
XM_017006349.1:c.769G>T XP_016861838.1:p.Val257Leu
XM_017006350.1:c.769G>T XP_016861839.1:p.Val257Leu
NM_000884.3:c.634G>T MANE Select NP_000875.2:p.Val212Leu