Canonical Allele Identifier: CA352740070

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064172T>G (hg19) ; chr3:g.49026739T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026739T>G , CM000665.2:g.49026739T>G	GRCh38
NC_000003.11:g.49064172T>G , CM000665.1:g.49064172T>G	GRCh37
NC_000003.10:g.49039176T>G	NCBI36
NG_012091.1:g.7704A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2807A>C	ENSP00000515567.1:p.Asp936Ala
ENST00000703937.1:c.*1868A>C	ENSP00000515568.1:n.*1868A>C
ENST00000326739.9:c.767A>C MANE Select	ENSP00000321584.4:p.Asp256Ala
ENST00000429182.6:c.767A>C	ENSP00000393525.2:p.Asp256Ala
ENST00000442157.2:c.692A>C	ENSP00000403502.2:p.Asp231Ala
ENST00000462980.2:n.1282A>C
ENST00000472328.2:n.833A>C
ENST00000491610.2:n.727A>C
ENST00000676607.1:n.1063A>C
ENST00000676627.1:n.1497A>C
ENST00000676708.1:n.2047A>C
ENST00000676864.1:n.1916A>C
ENST00000677010.1:c.803A>C	ENSP00000503089.1:p.Asp268Ala
ENST00000677108.1:n.2673A>C
ENST00000677168.1:n.1239A>C
ENST00000677185.1:n.1330A>C
ENST00000677205.1:n.1551A>C
ENST00000677344.1:n.2041A>C
ENST00000677480.1:c.*444A>C	ENSP00000504378.1:n.*444A>C
ENST00000677519.1:n.1477A>C
ENST00000677593.1:n.1323A>C
ENST00000677740.1:n.2272A>C
ENST00000677991.1:n.1940A>C
ENST00000678001.1:n.1260A>C
ENST00000678085.1:n.1323A>C
ENST00000678177.1:n.2616A>C
ENST00000678603.1:n.1845A>C
ENST00000678724.1:c.692A>C	ENSP00000503874.1:p.Asp231Ala
ENST00000678920.1:n.925A>C
ENST00000679019.1:n.1537A>C
ENST00000679117.1:c.*582A>C	ENSP00000503240.1:n.*582A>C
ENST00000679339.1:n.1608A>C
ENST00000326739.8:c.767A>C	ENSP00000321584.4:p.Asp256Ala
ENST00000429182.5:c.561A>C
ENST00000442157.1:c.692A>C	ENSP00000403502.1:p.Asp231Ala
ENST00000462980.1:n.669A>C
ENST00000491610.1:n.727A>C
NM_000884.2:c.767A>C	NP_000875.2:p.Asp256Ala
XM_006713128.2:c.977A>C	XP_006713191.1:p.Asp326Ala
XM_006713128.3:c.977A>C	XP_006713191.1:p.Asp326Ala
XM_017006349.1:c.902A>C	XP_016861838.1:p.Asp301Ala
XM_017006350.1:c.902A>C	XP_016861839.1:p.Asp301Ala
NM_000884.3:c.767A>C MANE Select	NP_000875.2:p.Asp256Ala