Canonical Allele Identifier: CA2390618

Gene: IMPDH2

Linked Data

• dbSNP Id: rs756527414
• ExAC: 3:49064192 G / A
• gnomAD v2: 3-49064192-G-A
• gnomAD v4: 3-49026759-G-A
• MyVariant Identifiers: chr3:g.49064192G>A (hg19) ; chr3:g.49026759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026759G>A , CM000665.2:g.49026759G>A	GRCh38
NC_000003.11:g.49064192G>A , CM000665.1:g.49064192G>A	GRCh37
NC_000003.10:g.49039196G>A	NCBI36
NG_012091.1:g.7684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2787C>T	ENSP00000515567.1:p.Ala929=
ENST00000703937.1:c.*1848C>T	ENSP00000515568.1:n.*1848C>T
ENST00000326739.9:c.747C>T MANE Select	ENSP00000321584.4:p.Ala249=
ENST00000429182.6:c.747C>T	ENSP00000393525.2:p.Ala249=
ENST00000442157.2:c.672C>T	ENSP00000403502.2:p.Ala224=
ENST00000462980.2:n.1262C>T
ENST00000472328.2:n.813C>T
ENST00000491610.2:n.707C>T
ENST00000676607.1:n.1043C>T
ENST00000676627.1:n.1477C>T
ENST00000676708.1:n.2027C>T
ENST00000676864.1:n.1896C>T
ENST00000677010.1:c.783C>T	ENSP00000503089.1:p.Ala261=
ENST00000677108.1:n.2653C>T
ENST00000677168.1:n.1219C>T
ENST00000677185.1:n.1310C>T
ENST00000677205.1:n.1531C>T
ENST00000677344.1:n.2021C>T
ENST00000677480.1:c.*424C>T	ENSP00000504378.1:n.*424C>T
ENST00000677519.1:n.1457C>T
ENST00000677593.1:n.1303C>T
ENST00000677740.1:n.2252C>T
ENST00000677991.1:n.1920C>T
ENST00000678001.1:n.1240C>T
ENST00000678085.1:n.1303C>T
ENST00000678177.1:n.2596C>T
ENST00000678603.1:n.1825C>T
ENST00000678724.1:c.672C>T	ENSP00000503874.1:p.Ala224=
ENST00000678920.1:n.905C>T
ENST00000679019.1:n.1517C>T
ENST00000679117.1:c.*562C>T	ENSP00000503240.1:n.*562C>T
ENST00000679339.1:n.1588C>T
ENST00000326739.8:c.747C>T	ENSP00000321584.4:p.Ala249=
ENST00000429182.5:c.541C>T
ENST00000442157.1:c.672C>T	ENSP00000403502.1:p.Ala224=
ENST00000462980.1:n.649C>T
ENST00000491610.1:n.707C>T
NM_000884.2:c.747C>T	NP_000875.2:p.Ala249=
XM_006713128.2:c.957C>T	XP_006713191.1:p.Ala319=
XM_006713128.3:c.957C>T	XP_006713191.1:p.Ala319=
XM_017006349.1:c.882C>T	XP_016861838.1:p.Ala294=
XM_017006350.1:c.882C>T	XP_016861839.1:p.Ala294=
NM_000884.3:c.747C>T MANE Select	NP_000875.2:p.Ala249=