Canonical Allele Identifier: CA352741076

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064299C>A (hg19) ; chr3:g.49026866C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026866C>A , CM000665.2:g.49026866C>A	GRCh38
NC_000003.11:g.49064299C>A , CM000665.1:g.49064299C>A	GRCh37
NC_000003.10:g.49039303C>A	NCBI36
NG_012091.1:g.7577G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2680G>T	ENSP00000515567.1:p.Glu894Ter
ENST00000703937.1:c.*1741G>T	ENSP00000515568.1:n.*1741G>T
ENST00000326739.9:c.640G>T MANE Select	ENSP00000321584.4:p.Glu214Ter
ENST00000429182.6:c.640G>T	ENSP00000393525.2:p.Glu214Ter
ENST00000442157.2:c.565G>T	ENSP00000403502.2:p.Glu189Ter
ENST00000462980.2:n.1155G>T
ENST00000472328.2:n.706G>T
ENST00000491610.2:n.600G>T
ENST00000676607.1:n.936G>T
ENST00000676627.1:n.1370G>T
ENST00000676708.1:n.1920G>T
ENST00000676864.1:n.1789G>T
ENST00000677010.1:c.676G>T	ENSP00000503089.1:p.Glu226Ter
ENST00000677108.1:n.2546G>T
ENST00000677168.1:n.1112G>T
ENST00000677185.1:n.1203G>T
ENST00000677205.1:n.1424G>T
ENST00000677344.1:n.1914G>T
ENST00000677480.1:c.*317G>T	ENSP00000504378.1:n.*317G>T
ENST00000677519.1:n.1350G>T
ENST00000677593.1:n.1196G>T
ENST00000677740.1:n.2145G>T
ENST00000677991.1:n.1813G>T
ENST00000678001.1:n.1133G>T
ENST00000678085.1:n.1196G>T
ENST00000678177.1:n.2489G>T
ENST00000678603.1:n.1718G>T
ENST00000678724.1:c.565G>T	ENSP00000503874.1:p.Glu189Ter
ENST00000678920.1:n.798G>T
ENST00000679019.1:n.1410G>T
ENST00000679117.1:c.*455G>T	ENSP00000503240.1:n.*455G>T
ENST00000679339.1:n.1481G>T
ENST00000326739.8:c.640G>T	ENSP00000321584.4:p.Glu214Ter
ENST00000429182.5:c.434G>T
ENST00000442157.1:c.565G>T	ENSP00000403502.1:p.Glu189Ter
ENST00000462980.1:n.542G>T
ENST00000491610.1:n.600G>T
NM_000884.2:c.640G>T	NP_000875.2:p.Glu214Ter
XM_006713128.2:c.850G>T	XP_006713191.1:p.Glu284Ter
XM_006713128.3:c.850G>T	XP_006713191.1:p.Glu284Ter
XM_017006349.1:c.775G>T	XP_016861838.1:p.Glu259Ter
XM_017006350.1:c.775G>T	XP_016861839.1:p.Glu259Ter
NM_000884.3:c.640G>T MANE Select	NP_000875.2:p.Glu214Ter