Canonical Allele Identifier: CA433629345

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026589-G-A
• MyVariant Identifiers: chr3:g.49064022G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026589G>A , CM000665.2:g.49026589G>A	GRCh38
NC_000003.11:g.49064022G>A , CM000665.1:g.49064022G>A	GRCh37
NC_000003.10:g.49039026G>A	NCBI36
NG_012091.1:g.7854C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2880C>T	ENSP00000515567.1:p.Ser960=
ENST00000703937.1:c.*1941C>T	ENSP00000515568.1:n.*1941C>T
ENST00000326739.9:c.840C>T MANE Select	ENSP00000321584.4:p.Ser280=
ENST00000429182.6:c.840C>T	ENSP00000393525.2:p.Ser280=
ENST00000442157.2:c.765C>T	ENSP00000403502.2:p.Ser255=
ENST00000462980.2:n.1355C>T
ENST00000472328.2:n.906C>T
ENST00000491610.2:n.800C>T
ENST00000676607.1:n.1136C>T
ENST00000676627.1:n.1570C>T
ENST00000676708.1:n.2120C>T
ENST00000676864.1:n.1989C>T
ENST00000677010.1:c.864C>T	ENSP00000503089.1:p.Ser288=
ENST00000677108.1:n.2823C>T
ENST00000677168.1:n.1312C>T
ENST00000677185.1:n.1403C>T
ENST00000677205.1:n.1624C>T
ENST00000677344.1:n.2114C>T
ENST00000677480.1:c.*517C>T	ENSP00000504378.1:n.*517C>T
ENST00000677519.1:n.1550C>T
ENST00000677593.1:n.1396C>T
ENST00000677740.1:n.2345C>T
ENST00000677991.1:n.2013C>T
ENST00000678001.1:n.1333C>T
ENST00000678085.1:n.1473C>T
ENST00000678177.1:n.2766C>T
ENST00000678603.1:n.1918C>T
ENST00000678724.1:c.765C>T	ENSP00000503874.1:p.Ser255=
ENST00000678920.1:n.998C>T
ENST00000679019.1:n.1687C>T
ENST00000679117.1:c.*655C>T	ENSP00000503240.1:n.*655C>T
ENST00000679339.1:n.1681C>T
ENST00000326739.8:c.840C>T	ENSP00000321584.4:p.Ser280=
ENST00000429182.5:c.634C>T
ENST00000442157.1:c.765C>T	ENSP00000403502.1:p.Ser255=
ENST00000462980.1:n.742C>T
ENST00000491610.1:n.800C>T
NM_000884.2:c.840C>T	NP_000875.2:p.Ser280=
XM_006713128.2:c.1050C>T	XP_006713191.1:p.Ser350=
XM_006713128.3:c.1050C>T	XP_006713191.1:p.Ser350=
XM_017006349.1:c.975C>T	XP_016861838.1:p.Ser325=
XM_017006350.1:c.975C>T	XP_016861839.1:p.Ser325=
NM_000884.3:c.840C>T MANE Select	NP_000875.2:p.Ser280=