Canonical Allele Identifier: CA124374
Gene: IMPDH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 14833
ClinVar RCV Id: RCV000015958
dbSNP Id: rs121434586
gnomAD v2: 3-49064152-G-A
gnomAD v4: 3-49026719-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026719G>A , CM000665.2:g.49026719G>A GRCh38
NC_000003.11:g.49064152G>A , CM000665.1:g.49064152G>A GRCh37
NC_000003.10:g.49039156G>A NCBI36
NG_012091.1:g.7724C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703936.1:c.2827C>T ENSP00000515567.1:p.Leu943Phe
ENST00000703937.1:c.*1888C>T ENSP00000515568.1:n.*1888C>T
ENST00000326739.9:c.787C>T MANE Select ENSP00000321584.4:p.Leu263Phe
ENST00000429182.6:c.787C>T ENSP00000393525.2:p.Leu263Phe
ENST00000442157.2:c.712C>T ENSP00000403502.2:p.Leu238Phe
ENST00000462980.2:n.1302C>T
ENST00000472328.2:n.853C>T
ENST00000491610.2:n.747C>T
ENST00000676607.1:n.1083C>T
ENST00000676627.1:n.1517C>T
ENST00000676708.1:n.2067C>T
ENST00000676864.1:n.1936C>T
ENST00000677010.1:c.823C>T ENSP00000503089.1:p.Leu275Phe
ENST00000677108.1:n.2693C>T
ENST00000677168.1:n.1259C>T
ENST00000677185.1:n.1350C>T
ENST00000677205.1:n.1571C>T
ENST00000677344.1:n.2061C>T
ENST00000677480.1:c.*464C>T ENSP00000504378.1:n.*464C>T
ENST00000677519.1:n.1497C>T
ENST00000677593.1:n.1343C>T
ENST00000677740.1:n.2292C>T
ENST00000677991.1:n.1960C>T
ENST00000678001.1:n.1280C>T
ENST00000678085.1:n.1343C>T
ENST00000678177.1:n.2636C>T
ENST00000678603.1:n.1865C>T
ENST00000678724.1:c.712C>T ENSP00000503874.1:p.Leu238Phe
ENST00000678920.1:n.945C>T
ENST00000679019.1:n.1557C>T
ENST00000679117.1:c.*602C>T ENSP00000503240.1:n.*602C>T
ENST00000679339.1:n.1628C>T
ENST00000326739.8:c.787C>T ENSP00000321584.4:p.Leu263Phe
ENST00000429182.5:c.581C>T
ENST00000442157.1:c.712C>T ENSP00000403502.1:p.Leu238Phe
ENST00000462980.1:n.689C>T
ENST00000491610.1:n.747C>T
NM_000884.2:c.787C>T NP_000875.2:p.Leu263Phe
XM_006713128.2:c.997C>T XP_006713191.1:p.Leu333Phe
XM_006713128.3:c.997C>T XP_006713191.1:p.Leu333Phe
XM_017006349.1:c.922C>T XP_016861838.1:p.Leu308Phe
XM_017006350.1:c.922C>T XP_016861839.1:p.Leu308Phe
NM_000884.3:c.787C>T MANE Select NP_000875.2:p.Leu263Phe