Canonical Allele Identifier: CA352740320

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064208A>T (hg19) ; chr3:g.49026775A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026775A>T , CM000665.2:g.49026775A>T	GRCh38
NC_000003.11:g.49064208A>T , CM000665.1:g.49064208A>T	GRCh37
NC_000003.10:g.49039212A>T	NCBI36
NG_012091.1:g.7668T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2771T>A	ENSP00000515567.1:p.Leu924Gln
ENST00000703937.1:c.*1832T>A	ENSP00000515568.1:n.*1832T>A
ENST00000326739.9:c.731T>A MANE Select	ENSP00000321584.4:p.Leu244Gln
ENST00000429182.6:c.731T>A	ENSP00000393525.2:p.Leu244Gln
ENST00000442157.2:c.656T>A	ENSP00000403502.2:p.Leu219Gln
ENST00000462980.2:n.1246T>A
ENST00000472328.2:n.797T>A
ENST00000491610.2:n.691T>A
ENST00000676607.1:n.1027T>A
ENST00000676627.1:n.1461T>A
ENST00000676708.1:n.2011T>A
ENST00000676864.1:n.1880T>A
ENST00000677010.1:c.767T>A	ENSP00000503089.1:p.Leu256Gln
ENST00000677108.1:n.2637T>A
ENST00000677168.1:n.1203T>A
ENST00000677185.1:n.1294T>A
ENST00000677205.1:n.1515T>A
ENST00000677344.1:n.2005T>A
ENST00000677480.1:c.*408T>A	ENSP00000504378.1:n.*408T>A
ENST00000677519.1:n.1441T>A
ENST00000677593.1:n.1287T>A
ENST00000677740.1:n.2236T>A
ENST00000677991.1:n.1904T>A
ENST00000678001.1:n.1224T>A
ENST00000678085.1:n.1287T>A
ENST00000678177.1:n.2580T>A
ENST00000678603.1:n.1809T>A
ENST00000678724.1:c.656T>A	ENSP00000503874.1:p.Leu219Gln
ENST00000678920.1:n.889T>A
ENST00000679019.1:n.1501T>A
ENST00000679117.1:c.*546T>A	ENSP00000503240.1:n.*546T>A
ENST00000679339.1:n.1572T>A
ENST00000326739.8:c.731T>A	ENSP00000321584.4:p.Leu244Gln
ENST00000429182.5:c.525T>A
ENST00000442157.1:c.656T>A	ENSP00000403502.1:p.Leu219Gln
ENST00000462980.1:n.633T>A
ENST00000491610.1:n.691T>A
NM_000884.2:c.731T>A	NP_000875.2:p.Leu244Gln
XM_006713128.2:c.941T>A	XP_006713191.1:p.Leu314Gln
XM_006713128.3:c.941T>A	XP_006713191.1:p.Leu314Gln
XM_017006349.1:c.866T>A	XP_016861838.1:p.Leu289Gln
XM_017006350.1:c.866T>A	XP_016861839.1:p.Leu289Gln
NM_000884.3:c.731T>A MANE Select	NP_000875.2:p.Leu244Gln