Canonical Allele Identifier: CA352740815

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026838-G-T
• MyVariant Identifiers: chr3:g.49064271G>T (hg19) ; chr3:g.49026838G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026838G>T , CM000665.2:g.49026838G>T	GRCh38
NC_000003.11:g.49064271G>T , CM000665.1:g.49064271G>T	GRCh37
NC_000003.10:g.49039275G>T	NCBI36
NG_012091.1:g.7605C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2708C>A	ENSP00000515567.1:p.Ala903Asp
ENST00000703937.1:c.*1769C>A	ENSP00000515568.1:n.*1769C>A
ENST00000326739.9:c.668C>A MANE Select	ENSP00000321584.4:p.Ala223Asp
ENST00000429182.6:c.668C>A	ENSP00000393525.2:p.Ala223Asp
ENST00000442157.2:c.593C>A	ENSP00000403502.2:p.Ala198Asp
ENST00000462980.2:n.1183C>A
ENST00000472328.2:n.734C>A
ENST00000491610.2:n.628C>A
ENST00000676607.1:n.964C>A
ENST00000676627.1:n.1398C>A
ENST00000676708.1:n.1948C>A
ENST00000676864.1:n.1817C>A
ENST00000677010.1:c.704C>A	ENSP00000503089.1:p.Ala235Asp
ENST00000677108.1:n.2574C>A
ENST00000677168.1:n.1140C>A
ENST00000677185.1:n.1231C>A
ENST00000677205.1:n.1452C>A
ENST00000677344.1:n.1942C>A
ENST00000677480.1:c.*345C>A	ENSP00000504378.1:n.*345C>A
ENST00000677519.1:n.1378C>A
ENST00000677593.1:n.1224C>A
ENST00000677740.1:n.2173C>A
ENST00000677991.1:n.1841C>A
ENST00000678001.1:n.1161C>A
ENST00000678085.1:n.1224C>A
ENST00000678177.1:n.2517C>A
ENST00000678603.1:n.1746C>A
ENST00000678724.1:c.593C>A	ENSP00000503874.1:p.Ala198Asp
ENST00000678920.1:n.826C>A
ENST00000679019.1:n.1438C>A
ENST00000679117.1:c.*483C>A	ENSP00000503240.1:n.*483C>A
ENST00000679339.1:n.1509C>A
ENST00000326739.8:c.668C>A	ENSP00000321584.4:p.Ala223Asp
ENST00000429182.5:c.462C>A
ENST00000442157.1:c.593C>A	ENSP00000403502.1:p.Ala198Asp
ENST00000462980.1:n.570C>A
ENST00000491610.1:n.628C>A
NM_000884.2:c.668C>A	NP_000875.2:p.Ala223Asp
XM_006713128.2:c.878C>A	XP_006713191.1:p.Ala293Asp
XM_006713128.3:c.878C>A	XP_006713191.1:p.Ala293Asp
XM_017006349.1:c.803C>A	XP_016861838.1:p.Ala268Asp
XM_017006350.1:c.803C>A	XP_016861839.1:p.Ala268Asp
NM_000884.3:c.668C>A MANE Select	NP_000875.2:p.Ala223Asp