Canonical Allele Identifier: CA352740105

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064175T>G (hg19) ; chr3:g.49026742T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026742T>G , CM000665.2:g.49026742T>G	GRCh38
NC_000003.11:g.49064175T>G , CM000665.1:g.49064175T>G	GRCh37
NC_000003.10:g.49039179T>G	NCBI36
NG_012091.1:g.7701A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2804A>C	ENSP00000515567.1:p.Asp935Ala
ENST00000703937.1:c.*1865A>C	ENSP00000515568.1:n.*1865A>C
ENST00000326739.9:c.764A>C MANE Select	ENSP00000321584.4:p.Asp255Ala
ENST00000429182.6:c.764A>C	ENSP00000393525.2:p.Asp255Ala
ENST00000442157.2:c.689A>C	ENSP00000403502.2:p.Asp230Ala
ENST00000462980.2:n.1279A>C
ENST00000472328.2:n.830A>C
ENST00000491610.2:n.724A>C
ENST00000676607.1:n.1060A>C
ENST00000676627.1:n.1494A>C
ENST00000676708.1:n.2044A>C
ENST00000676864.1:n.1913A>C
ENST00000677010.1:c.800A>C	ENSP00000503089.1:p.Asp267Ala
ENST00000677108.1:n.2670A>C
ENST00000677168.1:n.1236A>C
ENST00000677185.1:n.1327A>C
ENST00000677205.1:n.1548A>C
ENST00000677344.1:n.2038A>C
ENST00000677480.1:c.*441A>C	ENSP00000504378.1:n.*441A>C
ENST00000677519.1:n.1474A>C
ENST00000677593.1:n.1320A>C
ENST00000677740.1:n.2269A>C
ENST00000677991.1:n.1937A>C
ENST00000678001.1:n.1257A>C
ENST00000678085.1:n.1320A>C
ENST00000678177.1:n.2613A>C
ENST00000678603.1:n.1842A>C
ENST00000678724.1:c.689A>C	ENSP00000503874.1:p.Asp230Ala
ENST00000678920.1:n.922A>C
ENST00000679019.1:n.1534A>C
ENST00000679117.1:c.*579A>C	ENSP00000503240.1:n.*579A>C
ENST00000679339.1:n.1605A>C
ENST00000326739.8:c.764A>C	ENSP00000321584.4:p.Asp255Ala
ENST00000429182.5:c.558A>C
ENST00000442157.1:c.689A>C	ENSP00000403502.1:p.Asp230Ala
ENST00000462980.1:n.666A>C
ENST00000491610.1:n.724A>C
NM_000884.2:c.764A>C	NP_000875.2:p.Asp255Ala
XM_006713128.2:c.974A>C	XP_006713191.1:p.Asp325Ala
XM_006713128.3:c.974A>C	XP_006713191.1:p.Asp325Ala
XM_017006349.1:c.899A>C	XP_016861838.1:p.Asp300Ala
XM_017006350.1:c.899A>C	XP_016861839.1:p.Asp300Ala
NM_000884.3:c.764A>C MANE Select	NP_000875.2:p.Asp255Ala