Canonical Allele Identifier: CA352741666

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064416T>G (hg19) ; chr3:g.49026983T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026983T>G , CM000665.2:g.49026983T>G	GRCh38
NC_000003.11:g.49064416T>G , CM000665.1:g.49064416T>G	GRCh37
NC_000003.10:g.49039420T>G	NCBI36
NG_012091.1:g.7460A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2636A>C	ENSP00000515567.1:p.Glu879Ala
ENST00000703937.1:c.*1697A>C	ENSP00000515568.1:n.*1697A>C
ENST00000326739.9:c.596A>C MANE Select	ENSP00000321584.4:p.Glu199Ala
ENST00000429182.6:c.596A>C	ENSP00000393525.2:p.Glu199Ala
ENST00000442157.2:c.521A>C	ENSP00000403502.2:p.Glu174Ala
ENST00000462980.2:n.1111A>C
ENST00000472328.2:n.662A>C
ENST00000491610.2:n.483A>C
ENST00000676607.1:n.892A>C
ENST00000676627.1:n.1326A>C
ENST00000676708.1:n.1803A>C
ENST00000676864.1:n.1672A>C
ENST00000677010.1:c.632A>C	ENSP00000503089.1:p.Glu211Ala
ENST00000677108.1:n.2429A>C
ENST00000677168.1:n.1068A>C
ENST00000677185.1:n.1086A>C
ENST00000677205.1:n.1307A>C
ENST00000677344.1:n.1797A>C
ENST00000677480.1:c.*273A>C	ENSP00000504378.1:n.*273A>C
ENST00000677519.1:n.1306A>C
ENST00000677593.1:n.1079A>C
ENST00000677740.1:n.2028A>C
ENST00000677991.1:n.1769A>C
ENST00000678001.1:n.1089A>C
ENST00000678085.1:n.1079A>C
ENST00000678177.1:n.2372A>C
ENST00000678603.1:n.1674A>C
ENST00000678724.1:c.521A>C	ENSP00000503874.1:p.Glu174Ala
ENST00000678920.1:n.754A>C
ENST00000679019.1:n.1293A>C
ENST00000679117.1:c.*411A>C	ENSP00000503240.1:n.*411A>C
ENST00000679339.1:n.1364A>C
ENST00000326739.8:c.596A>C	ENSP00000321584.4:p.Glu199Ala
ENST00000429182.5:c.390A>C
ENST00000442157.1:c.521A>C	ENSP00000403502.1:p.Glu174Ala
ENST00000462980.1:n.498A>C
ENST00000491610.1:n.483A>C
NM_000884.2:c.596A>C	NP_000875.2:p.Glu199Ala
XM_006713128.2:c.806A>C	XP_006713191.1:p.Glu269Ala
XM_006713128.3:c.806A>C	XP_006713191.1:p.Glu269Ala
XM_017006349.1:c.731A>C	XP_016861838.1:p.Glu244Ala
XM_017006350.1:c.731A>C	XP_016861839.1:p.Glu244Ala
NM_000884.3:c.596A>C MANE Select	NP_000875.2:p.Glu199Ala