Canonical Allele Identifier: CA433629586
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs1575310226
gnomAD v4: 3-49026798-G-A
MyVariant Identifiers: chr3:g.49064231G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026798G>A , CM000665.2:g.49026798G>A GRCh38
NC_000003.11:g.49064231G>A , CM000665.1:g.49064231G>A GRCh37
NC_000003.10:g.49039235G>A NCBI36
NG_012091.1:g.7645C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2748C>T ENSP00000515567.1:p.Ala916=
ENST00000703937.1:c.*1809C>T ENSP00000515568.1:n.*1809C>T
ENST00000326739.9:c.708C>T MANE Select ENSP00000321584.4:p.Ala236=
ENST00000429182.6:c.708C>T ENSP00000393525.2:p.Ala236=
ENST00000442157.2:c.633C>T ENSP00000403502.2:p.Ala211=
ENST00000462980.2:n.1223C>T
ENST00000472328.2:n.774C>T
ENST00000491610.2:n.668C>T
ENST00000676607.1:n.1004C>T
ENST00000676627.1:n.1438C>T
ENST00000676708.1:n.1988C>T
ENST00000676864.1:n.1857C>T
ENST00000677010.1:c.744C>T ENSP00000503089.1:p.Ala248=
ENST00000677108.1:n.2614C>T
ENST00000677168.1:n.1180C>T
ENST00000677185.1:n.1271C>T
ENST00000677205.1:n.1492C>T
ENST00000677344.1:n.1982C>T
ENST00000677480.1:c.*385C>T ENSP00000504378.1:n.*385C>T
ENST00000677519.1:n.1418C>T
ENST00000677593.1:n.1264C>T
ENST00000677740.1:n.2213C>T
ENST00000677991.1:n.1881C>T
ENST00000678001.1:n.1201C>T
ENST00000678085.1:n.1264C>T
ENST00000678177.1:n.2557C>T
ENST00000678603.1:n.1786C>T
ENST00000678724.1:c.633C>T ENSP00000503874.1:p.Ala211=
ENST00000678920.1:n.866C>T
ENST00000679019.1:n.1478C>T
ENST00000679117.1:c.*523C>T ENSP00000503240.1:n.*523C>T
ENST00000679339.1:n.1549C>T
ENST00000326739.8:c.708C>T ENSP00000321584.4:p.Ala236=
ENST00000429182.5:c.502C>T
ENST00000442157.1:c.633C>T ENSP00000403502.1:p.Ala211=
ENST00000462980.1:n.610C>T
ENST00000491610.1:n.668C>T
NM_000884.2:c.708C>T NP_000875.2:p.Ala236=
XM_006713128.2:c.918C>T XP_006713191.1:p.Ala306=
XM_006713128.3:c.918C>T XP_006713191.1:p.Ala306=
XM_017006349.1:c.843C>T XP_016861838.1:p.Ala281=
XM_017006350.1:c.843C>T XP_016861839.1:p.Ala281=
NM_000884.3:c.708C>T MANE Select NP_000875.2:p.Ala236=