Canonical Allele Identifier: CA352741648

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064410A>T (hg19) ; chr3:g.49026977A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026977A>T , CM000665.2:g.49026977A>T	GRCh38
NC_000003.11:g.49064410A>T , CM000665.1:g.49064410A>T	GRCh37
NC_000003.10:g.49039414A>T	NCBI36
NG_012091.1:g.7466T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2642T>A	ENSP00000515567.1:p.Leu881Gln
ENST00000703937.1:c.*1703T>A	ENSP00000515568.1:n.*1703T>A
ENST00000326739.9:c.602T>A MANE Select	ENSP00000321584.4:p.Leu201Gln
ENST00000429182.6:c.602T>A	ENSP00000393525.2:p.Leu201Gln
ENST00000442157.2:c.527T>A	ENSP00000403502.2:p.Leu176Gln
ENST00000462980.2:n.1117T>A
ENST00000472328.2:n.668T>A
ENST00000491610.2:n.489T>A
ENST00000676607.1:n.898T>A
ENST00000676627.1:n.1332T>A
ENST00000676708.1:n.1809T>A
ENST00000676864.1:n.1678T>A
ENST00000677010.1:c.638T>A	ENSP00000503089.1:p.Leu213Gln
ENST00000677108.1:n.2435T>A
ENST00000677168.1:n.1074T>A
ENST00000677185.1:n.1092T>A
ENST00000677205.1:n.1313T>A
ENST00000677344.1:n.1803T>A
ENST00000677480.1:c.*279T>A	ENSP00000504378.1:n.*279T>A
ENST00000677519.1:n.1312T>A
ENST00000677593.1:n.1085T>A
ENST00000677740.1:n.2034T>A
ENST00000677991.1:n.1775T>A
ENST00000678001.1:n.1095T>A
ENST00000678085.1:n.1085T>A
ENST00000678177.1:n.2378T>A
ENST00000678603.1:n.1680T>A
ENST00000678724.1:c.527T>A	ENSP00000503874.1:p.Leu176Gln
ENST00000678920.1:n.760T>A
ENST00000679019.1:n.1299T>A
ENST00000679117.1:c.*417T>A	ENSP00000503240.1:n.*417T>A
ENST00000679339.1:n.1370T>A
ENST00000326739.8:c.602T>A	ENSP00000321584.4:p.Leu201Gln
ENST00000429182.5:c.396T>A
ENST00000442157.1:c.527T>A	ENSP00000403502.1:p.Leu176Gln
ENST00000462980.1:n.504T>A
ENST00000491610.1:n.489T>A
NM_000884.2:c.602T>A	NP_000875.2:p.Leu201Gln
XM_006713128.2:c.812T>A	XP_006713191.1:p.Leu271Gln
XM_006713128.3:c.812T>A	XP_006713191.1:p.Leu271Gln
XM_017006349.1:c.737T>A	XP_016861838.1:p.Leu246Gln
XM_017006350.1:c.737T>A	XP_016861839.1:p.Leu246Gln
NM_000884.3:c.602T>A MANE Select	NP_000875.2:p.Leu201Gln