Canonical Allele Identifier: CA352740344

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064211T>C (hg19) ; chr3:g.49026778T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026778T>C , CM000665.2:g.49026778T>C	GRCh38
NC_000003.11:g.49064211T>C , CM000665.1:g.49064211T>C	GRCh37
NC_000003.10:g.49039215T>C	NCBI36
NG_012091.1:g.7665A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2768A>G	ENSP00000515567.1:p.Gln923Arg
ENST00000703937.1:c.*1829A>G	ENSP00000515568.1:n.*1829A>G
ENST00000326739.9:c.728A>G MANE Select	ENSP00000321584.4:p.Gln243Arg
ENST00000429182.6:c.728A>G	ENSP00000393525.2:p.Gln243Arg
ENST00000442157.2:c.653A>G	ENSP00000403502.2:p.Gln218Arg
ENST00000462980.2:n.1243A>G
ENST00000472328.2:n.794A>G
ENST00000491610.2:n.688A>G
ENST00000676607.1:n.1024A>G
ENST00000676627.1:n.1458A>G
ENST00000676708.1:n.2008A>G
ENST00000676864.1:n.1877A>G
ENST00000677010.1:c.764A>G	ENSP00000503089.1:p.Gln255Arg
ENST00000677108.1:n.2634A>G
ENST00000677168.1:n.1200A>G
ENST00000677185.1:n.1291A>G
ENST00000677205.1:n.1512A>G
ENST00000677344.1:n.2002A>G
ENST00000677480.1:c.*405A>G	ENSP00000504378.1:n.*405A>G
ENST00000677519.1:n.1438A>G
ENST00000677593.1:n.1284A>G
ENST00000677740.1:n.2233A>G
ENST00000677991.1:n.1901A>G
ENST00000678001.1:n.1221A>G
ENST00000678085.1:n.1284A>G
ENST00000678177.1:n.2577A>G
ENST00000678603.1:n.1806A>G
ENST00000678724.1:c.653A>G	ENSP00000503874.1:p.Gln218Arg
ENST00000678920.1:n.886A>G
ENST00000679019.1:n.1498A>G
ENST00000679117.1:c.*543A>G	ENSP00000503240.1:n.*543A>G
ENST00000679339.1:n.1569A>G
ENST00000326739.8:c.728A>G	ENSP00000321584.4:p.Gln243Arg
ENST00000429182.5:c.522A>G
ENST00000442157.1:c.653A>G	ENSP00000403502.1:p.Gln218Arg
ENST00000462980.1:n.630A>G
ENST00000491610.1:n.688A>G
NM_000884.2:c.728A>G	NP_000875.2:p.Gln243Arg
XM_006713128.2:c.938A>G	XP_006713191.1:p.Gln313Arg
XM_006713128.3:c.938A>G	XP_006713191.1:p.Gln313Arg
XM_017006349.1:c.863A>G	XP_016861838.1:p.Gln288Arg
XM_017006350.1:c.863A>G	XP_016861839.1:p.Gln288Arg
NM_000884.3:c.728A>G MANE Select	NP_000875.2:p.Gln243Arg