Canonical Allele Identifier: CA352740281

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064200C>A (hg19) ; chr3:g.49026767C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026767C>A , CM000665.2:g.49026767C>A	GRCh38
NC_000003.11:g.49064200C>A , CM000665.1:g.49064200C>A	GRCh37
NC_000003.10:g.49039204C>A	NCBI36
NG_012091.1:g.7676G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2779G>T	ENSP00000515567.1:p.Gly927Trp
ENST00000703937.1:c.*1840G>T	ENSP00000515568.1:n.*1840G>T
ENST00000326739.9:c.739G>T MANE Select	ENSP00000321584.4:p.Gly247Trp
ENST00000429182.6:c.739G>T	ENSP00000393525.2:p.Gly247Trp
ENST00000442157.2:c.664G>T	ENSP00000403502.2:p.Gly222Trp
ENST00000462980.2:n.1254G>T
ENST00000472328.2:n.805G>T
ENST00000491610.2:n.699G>T
ENST00000676607.1:n.1035G>T
ENST00000676627.1:n.1469G>T
ENST00000676708.1:n.2019G>T
ENST00000676864.1:n.1888G>T
ENST00000677010.1:c.775G>T	ENSP00000503089.1:p.Gly259Trp
ENST00000677108.1:n.2645G>T
ENST00000677168.1:n.1211G>T
ENST00000677185.1:n.1302G>T
ENST00000677205.1:n.1523G>T
ENST00000677344.1:n.2013G>T
ENST00000677480.1:c.*416G>T	ENSP00000504378.1:n.*416G>T
ENST00000677519.1:n.1449G>T
ENST00000677593.1:n.1295G>T
ENST00000677740.1:n.2244G>T
ENST00000677991.1:n.1912G>T
ENST00000678001.1:n.1232G>T
ENST00000678085.1:n.1295G>T
ENST00000678177.1:n.2588G>T
ENST00000678603.1:n.1817G>T
ENST00000678724.1:c.664G>T	ENSP00000503874.1:p.Gly222Trp
ENST00000678920.1:n.897G>T
ENST00000679019.1:n.1509G>T
ENST00000679117.1:c.*554G>T	ENSP00000503240.1:n.*554G>T
ENST00000679339.1:n.1580G>T
ENST00000326739.8:c.739G>T	ENSP00000321584.4:p.Gly247Trp
ENST00000429182.5:c.533G>T
ENST00000442157.1:c.664G>T	ENSP00000403502.1:p.Gly222Trp
ENST00000462980.1:n.641G>T
ENST00000491610.1:n.699G>T
NM_000884.2:c.739G>T	NP_000875.2:p.Gly247Trp
XM_006713128.2:c.949G>T	XP_006713191.1:p.Gly317Trp
XM_006713128.3:c.949G>T	XP_006713191.1:p.Gly317Trp
XM_017006349.1:c.874G>T	XP_016861838.1:p.Gly292Trp
XM_017006350.1:c.874G>T	XP_016861839.1:p.Gly292Trp
NM_000884.3:c.739G>T MANE Select	NP_000875.2:p.Gly247Trp