Canonical Allele Identifier: CA1363291688

Gene: IMPDH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026854G= , CM000665.2:g.49026854G=	GRCh38
NC_000003.11:g.49064287G= , CM000665.1:g.49064287G=	GRCh37
NC_000003.10:g.49039291G=	NCBI36
NG_012091.1:g.7589C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2692C=	ENSP00000515567.1:p.Leu898=
ENST00000703937.1:c.*1753C=	ENSP00000515568.1:n.*1753C=
ENST00000326739.9:c.652C= MANE Select	ENSP00000321584.4:p.Leu218=
ENST00000429182.6:c.652C=	ENSP00000393525.2:p.Leu218=
ENST00000442157.2:c.577C=	ENSP00000403502.2:p.Leu193=
ENST00000462980.2:n.1167C=
ENST00000472328.2:n.718C=
ENST00000491610.2:n.612C=
ENST00000676607.1:n.948C=
ENST00000676627.1:n.1382C=
ENST00000676708.1:n.1932C=
ENST00000676864.1:n.1801C=
ENST00000677010.1:c.688C=	ENSP00000503089.1:p.Leu230=
ENST00000677108.1:n.2558C=
ENST00000677168.1:n.1124C=
ENST00000677185.1:n.1215C=
ENST00000677205.1:n.1436C=
ENST00000677344.1:n.1926C=
ENST00000677480.1:c.*329C=	ENSP00000504378.1:n.*329C=
ENST00000677519.1:n.1362C=
ENST00000677593.1:n.1208C=
ENST00000677740.1:n.2157C=
ENST00000677991.1:n.1825C=
ENST00000678001.1:n.1145C=
ENST00000678085.1:n.1208C=
ENST00000678177.1:n.2501C=
ENST00000678603.1:n.1730C=
ENST00000678724.1:c.577C=	ENSP00000503874.1:p.Leu193=
ENST00000678920.1:n.810C=
ENST00000679019.1:n.1422C=
ENST00000679117.1:c.*467C=	ENSP00000503240.1:n.*467C=
ENST00000679339.1:n.1493C=
ENST00000326739.8:c.652C=	ENSP00000321584.4:p.Leu218=
ENST00000429182.5:c.446C=
ENST00000442157.1:c.577C=	ENSP00000403502.1:p.Leu193=
ENST00000462980.1:n.554C=
ENST00000491610.1:n.612C=
NM_000884.2:c.652C=	NP_000875.2:p.Leu218=
XM_006713128.2:c.862C=	XP_006713191.1:p.Leu288=
XM_006713128.3:c.862C=	XP_006713191.1:p.Leu288=
XM_017006349.1:c.787C=	XP_016861838.1:p.Leu263=
XM_017006350.1:c.787C=	XP_016861839.1:p.Leu263=
NM_000884.3:c.652C= MANE Select	NP_000875.2:p.Leu218=