Canonical Allele Identifier: CA74018800
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs1014335625
gnomAD v3: 3-49026889-G-A
gnomAD v4: 3-49026889-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026889G>A , CM000665.2:g.49026889G>A GRCh38
NC_000003.11:g.49064322G>A , CM000665.1:g.49064322G>A GRCh37
NC_000003.10:g.49039326G>A NCBI36
NG_012091.1:g.7554C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2660-3C>T ENSP00000515567.1:n.2660-3C>T
ENST00000703937.1:c.*1721-3C>T ENSP00000515568.1:n.*1721-3C>T
ENST00000326739.9:c.620-3C>T MANE Select ENSP00000321584.4:n.620-3C>T
ENST00000429182.6:c.620-3C>T ENSP00000393525.2:n.620-3C>T
ENST00000442157.2:c.545-3C>T ENSP00000403502.2:n.545-3C>T
ENST00000462980.2:n.1135-3C>T
ENST00000472328.2:n.686-3C>T
ENST00000491610.2:n.577C>T
ENST00000676607.1:n.916-3C>T
ENST00000676627.1:n.1350-3C>T
ENST00000676708.1:n.1897C>T
ENST00000676864.1:n.1766C>T
ENST00000677010.1:c.656-3C>T ENSP00000503089.1:n.656-3C>T
ENST00000677108.1:n.2523C>T
ENST00000677168.1:n.1092-3C>T
ENST00000677185.1:n.1180C>T
ENST00000677205.1:n.1401C>T
ENST00000677344.1:n.1891C>T
ENST00000677480.1:c.*297-3C>T ENSP00000504378.1:n.*297-3C>T
ENST00000677519.1:n.1330-3C>T
ENST00000677593.1:n.1173C>T
ENST00000677740.1:n.2122C>T
ENST00000677991.1:n.1793-3C>T
ENST00000678001.1:n.1113-3C>T
ENST00000678085.1:n.1173C>T
ENST00000678177.1:n.2466C>T
ENST00000678603.1:n.1698-3C>T
ENST00000678724.1:c.545-3C>T ENSP00000503874.1:n.545-3C>T
ENST00000678920.1:n.778-3C>T
ENST00000679019.1:n.1387C>T
ENST00000679117.1:c.*435-3C>T ENSP00000503240.1:n.*435-3C>T
ENST00000679339.1:n.1458C>T
ENST00000326739.8:c.620-3C>T ENSP00000321584.4:n.620-3C>T
ENST00000429182.5:c.414-3C>T
ENST00000442157.1:c.545-3C>T ENSP00000403502.1:n.545-3C>T
ENST00000462980.1:n.522-3C>T
ENST00000491610.1:n.577C>T
NM_000884.2:c.620-3C>T NP_000875.2:n.620-3C>T
XM_006713128.2:c.830-3C>T XP_006713191.1:n.830-3C>T
XM_006713128.3:c.830-3C>T XP_006713191.1:n.830-3C>T
XM_017006349.1:c.755-3C>T XP_016861838.1:n.755-3C>T
XM_017006350.1:c.755-3C>T XP_016861839.1:n.755-3C>T
NM_000884.3:c.620-3C>T MANE Select NP_000875.2:n.620-3C>T