Canonical Allele Identifier: CA433629568

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064209G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026776G>A , CM000665.2:g.49026776G>A	GRCh38
NC_000003.11:g.49064209G>A , CM000665.1:g.49064209G>A	GRCh37
NC_000003.10:g.49039213G>A	NCBI36
NG_012091.1:g.7667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2770C>T	ENSP00000515567.1:p.Leu924=
ENST00000703937.1:c.*1831C>T	ENSP00000515568.1:n.*1831C>T
ENST00000326739.9:c.730C>T MANE Select	ENSP00000321584.4:p.Leu244=
ENST00000429182.6:c.730C>T	ENSP00000393525.2:p.Leu244=
ENST00000442157.2:c.655C>T	ENSP00000403502.2:p.Leu219=
ENST00000462980.2:n.1245C>T
ENST00000472328.2:n.796C>T
ENST00000491610.2:n.690C>T
ENST00000676607.1:n.1026C>T
ENST00000676627.1:n.1460C>T
ENST00000676708.1:n.2010C>T
ENST00000676864.1:n.1879C>T
ENST00000677010.1:c.766C>T	ENSP00000503089.1:p.Leu256=
ENST00000677108.1:n.2636C>T
ENST00000677168.1:n.1202C>T
ENST00000677185.1:n.1293C>T
ENST00000677205.1:n.1514C>T
ENST00000677344.1:n.2004C>T
ENST00000677480.1:c.*407C>T	ENSP00000504378.1:n.*407C>T
ENST00000677519.1:n.1440C>T
ENST00000677593.1:n.1286C>T
ENST00000677740.1:n.2235C>T
ENST00000677991.1:n.1903C>T
ENST00000678001.1:n.1223C>T
ENST00000678085.1:n.1286C>T
ENST00000678177.1:n.2579C>T
ENST00000678603.1:n.1808C>T
ENST00000678724.1:c.655C>T	ENSP00000503874.1:p.Leu219=
ENST00000678920.1:n.888C>T
ENST00000679019.1:n.1500C>T
ENST00000679117.1:c.*545C>T	ENSP00000503240.1:n.*545C>T
ENST00000679339.1:n.1571C>T
ENST00000326739.8:c.730C>T	ENSP00000321584.4:p.Leu244=
ENST00000429182.5:c.524C>T
ENST00000442157.1:c.655C>T	ENSP00000403502.1:p.Leu219=
ENST00000462980.1:n.632C>T
ENST00000491610.1:n.690C>T
NM_000884.2:c.730C>T	NP_000875.2:p.Leu244=
XM_006713128.2:c.940C>T	XP_006713191.1:p.Leu314=
XM_006713128.3:c.940C>T	XP_006713191.1:p.Leu314=
XM_017006349.1:c.865C>T	XP_016861838.1:p.Leu289=
XM_017006350.1:c.865C>T	XP_016861839.1:p.Leu289=
NM_000884.3:c.730C>T MANE Select	NP_000875.2:p.Leu244=