Canonical Allele Identifier: CA352739555

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064014T>A (hg19) ; chr3:g.49026581T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026581T>A , CM000665.2:g.49026581T>A	GRCh38
NC_000003.11:g.49064014T>A , CM000665.1:g.49064014T>A	GRCh37
NC_000003.10:g.49039018T>A	NCBI36
NG_012091.1:g.7862A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2888A>T	ENSP00000515567.1:p.Gln963Leu
ENST00000703937.1:c.*1949A>T	ENSP00000515568.1:n.*1949A>T
ENST00000326739.9:c.848A>T MANE Select	ENSP00000321584.4:p.Gln283Leu
ENST00000429182.6:c.848A>T	ENSP00000393525.2:p.Gln283Leu
ENST00000442157.2:c.773A>T	ENSP00000403502.2:p.Gln258Leu
ENST00000462980.2:n.1363A>T
ENST00000472328.2:n.914A>T
ENST00000491610.2:n.808A>T
ENST00000676607.1:n.1144A>T
ENST00000676627.1:n.1578A>T
ENST00000676708.1:n.2128A>T
ENST00000676864.1:n.1997A>T
ENST00000677010.1:c.872A>T	ENSP00000503089.1:p.Gln291Leu
ENST00000677108.1:n.2831A>T
ENST00000677168.1:n.1320A>T
ENST00000677185.1:n.1411A>T
ENST00000677205.1:n.1632A>T
ENST00000677344.1:n.2122A>T
ENST00000677480.1:c.*525A>T	ENSP00000504378.1:n.*525A>T
ENST00000677519.1:n.1558A>T
ENST00000677593.1:n.1404A>T
ENST00000677740.1:n.2353A>T
ENST00000677991.1:n.2021A>T
ENST00000678001.1:n.1341A>T
ENST00000678085.1:n.1481A>T
ENST00000678177.1:n.2774A>T
ENST00000678603.1:n.1926A>T
ENST00000678724.1:c.773A>T	ENSP00000503874.1:p.Gln258Leu
ENST00000678920.1:n.1006A>T
ENST00000679019.1:n.1695A>T
ENST00000679117.1:c.*663A>T	ENSP00000503240.1:n.*663A>T
ENST00000679339.1:n.1689A>T
ENST00000326739.8:c.848A>T	ENSP00000321584.4:p.Gln283Leu
ENST00000429182.5:c.642A>T
ENST00000442157.1:c.773A>T	ENSP00000403502.1:p.Gln258Leu
ENST00000462980.1:n.750A>T
ENST00000491610.1:n.808A>T
NM_000884.2:c.848A>T	NP_000875.2:p.Gln283Leu
XM_006713128.2:c.1058A>T	XP_006713191.1:p.Gln353Leu
XM_006713128.3:c.1058A>T	XP_006713191.1:p.Gln353Leu
XM_017006349.1:c.983A>T	XP_016861838.1:p.Gln328Leu
XM_017006350.1:c.983A>T	XP_016861839.1:p.Gln328Leu
NM_000884.3:c.848A>T MANE Select	NP_000875.2:p.Gln283Leu