Canonical Allele Identifier: CA352740341

Gene: IMPDH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2768A>T	ENSP00000515567.1:p.Gln923Leu
ENST00000703937.1:c.*1829A>T	ENSP00000515568.1:n.*1829A>T
ENST00000326739.9:c.728A>T MANE Select	ENSP00000321584.4:p.Gln243Leu
ENST00000429182.6:c.728A>T	ENSP00000393525.2:p.Gln243Leu
ENST00000442157.2:c.653A>T	ENSP00000403502.2:p.Gln218Leu
ENST00000462980.2:n.1243A>T
ENST00000472328.2:n.794A>T
ENST00000491610.2:n.688A>T
ENST00000676607.1:n.1024A>T
ENST00000676627.1:n.1458A>T
ENST00000676708.1:n.2008A>T
ENST00000676864.1:n.1877A>T
ENST00000677010.1:c.764A>T	ENSP00000503089.1:p.Gln255Leu
ENST00000677108.1:n.2634A>T
ENST00000677168.1:n.1200A>T
ENST00000677185.1:n.1291A>T
ENST00000677205.1:n.1512A>T
ENST00000677344.1:n.2002A>T
ENST00000677480.1:c.*405A>T	ENSP00000504378.1:n.*405A>T
ENST00000677519.1:n.1438A>T
ENST00000677593.1:n.1284A>T
ENST00000677740.1:n.2233A>T
ENST00000677991.1:n.1901A>T
ENST00000678001.1:n.1221A>T
ENST00000678085.1:n.1284A>T
ENST00000678177.1:n.2577A>T
ENST00000678603.1:n.1806A>T
ENST00000678724.1:c.653A>T	ENSP00000503874.1:p.Gln218Leu
ENST00000678920.1:n.886A>T
ENST00000679019.1:n.1498A>T
ENST00000679117.1:c.*543A>T	ENSP00000503240.1:n.*543A>T
ENST00000679339.1:n.1569A>T
ENST00000326739.8:c.728A>T	ENSP00000321584.4:p.Gln243Leu
ENST00000429182.5:c.522A>T
ENST00000442157.1:c.653A>T	ENSP00000403502.1:p.Gln218Leu
ENST00000462980.1:n.630A>T
ENST00000491610.1:n.688A>T
NM_000884.2:c.728A>T	NP_000875.2:p.Gln243Leu
XM_006713128.2:c.938A>T	XP_006713191.1:p.Gln313Leu
XM_006713128.3:c.938A>T	XP_006713191.1:p.Gln313Leu
XM_017006349.1:c.863A>T	XP_016861838.1:p.Gln288Leu
XM_017006350.1:c.863A>T	XP_016861839.1:p.Gln288Leu
NM_000884.3:c.728A>T MANE Select	NP_000875.2:p.Gln243Leu