Canonical Allele Identifier: CA352740315

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064206G>C (hg19) ; chr3:g.49026773G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026773G>C , CM000665.2:g.49026773G>C	GRCh38
NC_000003.11:g.49064206G>C , CM000665.1:g.49064206G>C	GRCh37
NC_000003.10:g.49039210G>C	NCBI36
NG_012091.1:g.7670C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2773C>G	ENSP00000515567.1:p.Leu925Val
ENST00000703937.1:c.*1834C>G	ENSP00000515568.1:n.*1834C>G
ENST00000326739.9:c.733C>G MANE Select	ENSP00000321584.4:p.Leu245Val
ENST00000429182.6:c.733C>G	ENSP00000393525.2:p.Leu245Val
ENST00000442157.2:c.658C>G	ENSP00000403502.2:p.Leu220Val
ENST00000462980.2:n.1248C>G
ENST00000472328.2:n.799C>G
ENST00000491610.2:n.693C>G
ENST00000676607.1:n.1029C>G
ENST00000676627.1:n.1463C>G
ENST00000676708.1:n.2013C>G
ENST00000676864.1:n.1882C>G
ENST00000677010.1:c.769C>G	ENSP00000503089.1:p.Leu257Val
ENST00000677108.1:n.2639C>G
ENST00000677168.1:n.1205C>G
ENST00000677185.1:n.1296C>G
ENST00000677205.1:n.1517C>G
ENST00000677344.1:n.2007C>G
ENST00000677480.1:c.*410C>G	ENSP00000504378.1:n.*410C>G
ENST00000677519.1:n.1443C>G
ENST00000677593.1:n.1289C>G
ENST00000677740.1:n.2238C>G
ENST00000677991.1:n.1906C>G
ENST00000678001.1:n.1226C>G
ENST00000678085.1:n.1289C>G
ENST00000678177.1:n.2582C>G
ENST00000678603.1:n.1811C>G
ENST00000678724.1:c.658C>G	ENSP00000503874.1:p.Leu220Val
ENST00000678920.1:n.891C>G
ENST00000679019.1:n.1503C>G
ENST00000679117.1:c.*548C>G	ENSP00000503240.1:n.*548C>G
ENST00000679339.1:n.1574C>G
ENST00000326739.8:c.733C>G	ENSP00000321584.4:p.Leu245Val
ENST00000429182.5:c.527C>G
ENST00000442157.1:c.658C>G	ENSP00000403502.1:p.Leu220Val
ENST00000462980.1:n.635C>G
ENST00000491610.1:n.693C>G
NM_000884.2:c.733C>G	NP_000875.2:p.Leu245Val
XM_006713128.2:c.943C>G	XP_006713191.1:p.Leu315Val
XM_006713128.3:c.943C>G	XP_006713191.1:p.Leu315Val
XM_017006349.1:c.868C>G	XP_016861838.1:p.Leu290Val
XM_017006350.1:c.868C>G	XP_016861839.1:p.Leu290Val
NM_000884.3:c.733C>G MANE Select	NP_000875.2:p.Leu245Val