Canonical Allele Identifier: CA352739551

Gene: IMPDH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2888A>C	ENSP00000515567.1:p.Gln963Pro
ENST00000703937.1:c.*1949A>C	ENSP00000515568.1:n.*1949A>C
ENST00000326739.9:c.848A>C MANE Select	ENSP00000321584.4:p.Gln283Pro
ENST00000429182.6:c.848A>C	ENSP00000393525.2:p.Gln283Pro
ENST00000442157.2:c.773A>C	ENSP00000403502.2:p.Gln258Pro
ENST00000462980.2:n.1363A>C
ENST00000472328.2:n.914A>C
ENST00000491610.2:n.808A>C
ENST00000676607.1:n.1144A>C
ENST00000676627.1:n.1578A>C
ENST00000676708.1:n.2128A>C
ENST00000676864.1:n.1997A>C
ENST00000677010.1:c.872A>C	ENSP00000503089.1:p.Gln291Pro
ENST00000677108.1:n.2831A>C
ENST00000677168.1:n.1320A>C
ENST00000677185.1:n.1411A>C
ENST00000677205.1:n.1632A>C
ENST00000677344.1:n.2122A>C
ENST00000677480.1:c.*525A>C	ENSP00000504378.1:n.*525A>C
ENST00000677519.1:n.1558A>C
ENST00000677593.1:n.1404A>C
ENST00000677740.1:n.2353A>C
ENST00000677991.1:n.2021A>C
ENST00000678001.1:n.1341A>C
ENST00000678085.1:n.1481A>C
ENST00000678177.1:n.2774A>C
ENST00000678603.1:n.1926A>C
ENST00000678724.1:c.773A>C	ENSP00000503874.1:p.Gln258Pro
ENST00000678920.1:n.1006A>C
ENST00000679019.1:n.1695A>C
ENST00000679117.1:c.*663A>C	ENSP00000503240.1:n.*663A>C
ENST00000679339.1:n.1689A>C
ENST00000326739.8:c.848A>C	ENSP00000321584.4:p.Gln283Pro
ENST00000429182.5:c.642A>C
ENST00000442157.1:c.773A>C	ENSP00000403502.1:p.Gln258Pro
ENST00000462980.1:n.750A>C
ENST00000491610.1:n.808A>C
NM_000884.2:c.848A>C	NP_000875.2:p.Gln283Pro
XM_006713128.2:c.1058A>C	XP_006713191.1:p.Gln353Pro
XM_006713128.3:c.1058A>C	XP_006713191.1:p.Gln353Pro
XM_017006349.1:c.983A>C	XP_016861838.1:p.Gln328Pro
XM_017006350.1:c.983A>C	XP_016861839.1:p.Gln328Pro
NM_000884.3:c.848A>C MANE Select	NP_000875.2:p.Gln283Pro