Canonical Allele Identifier: CA352739943
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs1157743548

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026715G>A , CM000665.2:g.49026715G>A GRCh38
NC_000003.11:g.49064148G>A , CM000665.1:g.49064148G>A GRCh37
NC_000003.10:g.49039152G>A NCBI36
NG_012091.1:g.7728C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2831C>T ENSP00000515567.1:p.Ala944Val
ENST00000703937.1:c.*1892C>T ENSP00000515568.1:n.*1892C>T
ENST00000326739.9:c.791C>T MANE Select ENSP00000321584.4:p.Ala264Val
ENST00000429182.6:c.791C>T ENSP00000393525.2:p.Ala264Val
ENST00000442157.2:c.716C>T ENSP00000403502.2:p.Ala239Val
ENST00000462980.2:n.1306C>T
ENST00000472328.2:n.857C>T
ENST00000491610.2:n.751C>T
ENST00000676607.1:n.1087C>T
ENST00000676627.1:n.1521C>T
ENST00000676708.1:n.2071C>T
ENST00000676864.1:n.1940C>T
ENST00000677010.1:c.827C>T ENSP00000503089.1:p.Ala276Val
ENST00000677108.1:n.2697C>T
ENST00000677168.1:n.1263C>T
ENST00000677185.1:n.1354C>T
ENST00000677205.1:n.1575C>T
ENST00000677344.1:n.2065C>T
ENST00000677480.1:c.*468C>T ENSP00000504378.1:n.*468C>T
ENST00000677519.1:n.1501C>T
ENST00000677593.1:n.1347C>T
ENST00000677740.1:n.2296C>T
ENST00000677991.1:n.1964C>T
ENST00000678001.1:n.1284C>T
ENST00000678085.1:n.1347C>T
ENST00000678177.1:n.2640C>T
ENST00000678603.1:n.1869C>T
ENST00000678724.1:c.716C>T ENSP00000503874.1:p.Ala239Val
ENST00000678920.1:n.949C>T
ENST00000679019.1:n.1561C>T
ENST00000679117.1:c.*606C>T ENSP00000503240.1:n.*606C>T
ENST00000679339.1:n.1632C>T
ENST00000326739.8:c.791C>T ENSP00000321584.4:p.Ala264Val
ENST00000429182.5:c.585C>T
ENST00000442157.1:c.716C>T ENSP00000403502.1:p.Ala239Val
ENST00000462980.1:n.693C>T
ENST00000491610.1:n.751C>T
NM_000884.2:c.791C>T NP_000875.2:p.Ala264Val
XM_006713128.2:c.1001C>T XP_006713191.1:p.Ala334Val
XM_006713128.3:c.1001C>T XP_006713191.1:p.Ala334Val
XM_017006349.1:c.926C>T XP_016861838.1:p.Ala309Val
XM_017006350.1:c.926C>T XP_016861839.1:p.Ala309Val
NM_000884.3:c.791C>T MANE Select NP_000875.2:p.Ala264Val