Canonical Allele Identifier: CA433629670

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026846-G-A
• MyVariant Identifiers: chr3:g.49064279G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026846G>A , CM000665.2:g.49026846G>A	GRCh38
NC_000003.11:g.49064279G>A , CM000665.1:g.49064279G>A	GRCh37
NC_000003.10:g.49039283G>A	NCBI36
NG_012091.1:g.7597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2700C>T	ENSP00000515567.1:p.Ala900=
ENST00000703937.1:c.*1761C>T	ENSP00000515568.1:n.*1761C>T
ENST00000326739.9:c.660C>T MANE Select	ENSP00000321584.4:p.Ala220=
ENST00000429182.6:c.660C>T	ENSP00000393525.2:p.Ala220=
ENST00000442157.2:c.585C>T	ENSP00000403502.2:p.Ala195=
ENST00000462980.2:n.1175C>T
ENST00000472328.2:n.726C>T
ENST00000491610.2:n.620C>T
ENST00000676607.1:n.956C>T
ENST00000676627.1:n.1390C>T
ENST00000676708.1:n.1940C>T
ENST00000676864.1:n.1809C>T
ENST00000677010.1:c.696C>T	ENSP00000503089.1:p.Ala232=
ENST00000677108.1:n.2566C>T
ENST00000677168.1:n.1132C>T
ENST00000677185.1:n.1223C>T
ENST00000677205.1:n.1444C>T
ENST00000677344.1:n.1934C>T
ENST00000677480.1:c.*337C>T	ENSP00000504378.1:n.*337C>T
ENST00000677519.1:n.1370C>T
ENST00000677593.1:n.1216C>T
ENST00000677740.1:n.2165C>T
ENST00000677991.1:n.1833C>T
ENST00000678001.1:n.1153C>T
ENST00000678085.1:n.1216C>T
ENST00000678177.1:n.2509C>T
ENST00000678603.1:n.1738C>T
ENST00000678724.1:c.585C>T	ENSP00000503874.1:p.Ala195=
ENST00000678920.1:n.818C>T
ENST00000679019.1:n.1430C>T
ENST00000679117.1:c.*475C>T	ENSP00000503240.1:n.*475C>T
ENST00000679339.1:n.1501C>T
ENST00000326739.8:c.660C>T	ENSP00000321584.4:p.Ala220=
ENST00000429182.5:c.454C>T
ENST00000442157.1:c.585C>T	ENSP00000403502.1:p.Ala195=
ENST00000462980.1:n.562C>T
ENST00000491610.1:n.620C>T
NM_000884.2:c.660C>T	NP_000875.2:p.Ala220=
XM_006713128.2:c.870C>T	XP_006713191.1:p.Ala290=
XM_006713128.3:c.870C>T	XP_006713191.1:p.Ala290=
XM_017006349.1:c.795C>T	XP_016861838.1:p.Ala265=
XM_017006350.1:c.795C>T	XP_016861839.1:p.Ala265=
NM_000884.3:c.660C>T MANE Select	NP_000875.2:p.Ala220=