Canonical Allele Identifier: CA352740069

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026738-G-T
• MyVariant Identifiers: chr3:g.49064171G>T (hg19) ; chr3:g.49026738G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026738G>T , CM000665.2:g.49026738G>T	GRCh38
NC_000003.11:g.49064171G>T , CM000665.1:g.49064171G>T	GRCh37
NC_000003.10:g.49039175G>T	NCBI36
NG_012091.1:g.7705C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2808C>A	ENSP00000515567.1:p.Asp936Glu
ENST00000703937.1:c.*1869C>A	ENSP00000515568.1:n.*1869C>A
ENST00000326739.9:c.768C>A MANE Select	ENSP00000321584.4:p.Asp256Glu
ENST00000429182.6:c.768C>A	ENSP00000393525.2:p.Asp256Glu
ENST00000442157.2:c.693C>A	ENSP00000403502.2:p.Asp231Glu
ENST00000462980.2:n.1283C>A
ENST00000472328.2:n.834C>A
ENST00000491610.2:n.728C>A
ENST00000676607.1:n.1064C>A
ENST00000676627.1:n.1498C>A
ENST00000676708.1:n.2048C>A
ENST00000676864.1:n.1917C>A
ENST00000677010.1:c.804C>A	ENSP00000503089.1:p.Asp268Glu
ENST00000677108.1:n.2674C>A
ENST00000677168.1:n.1240C>A
ENST00000677185.1:n.1331C>A
ENST00000677205.1:n.1552C>A
ENST00000677344.1:n.2042C>A
ENST00000677480.1:c.*445C>A	ENSP00000504378.1:n.*445C>A
ENST00000677519.1:n.1478C>A
ENST00000677593.1:n.1324C>A
ENST00000677740.1:n.2273C>A
ENST00000677991.1:n.1941C>A
ENST00000678001.1:n.1261C>A
ENST00000678085.1:n.1324C>A
ENST00000678177.1:n.2617C>A
ENST00000678603.1:n.1846C>A
ENST00000678724.1:c.693C>A	ENSP00000503874.1:p.Asp231Glu
ENST00000678920.1:n.926C>A
ENST00000679019.1:n.1538C>A
ENST00000679117.1:c.*583C>A	ENSP00000503240.1:n.*583C>A
ENST00000679339.1:n.1609C>A
ENST00000326739.8:c.768C>A	ENSP00000321584.4:p.Asp256Glu
ENST00000429182.5:c.562C>A
ENST00000442157.1:c.693C>A	ENSP00000403502.1:p.Asp231Glu
ENST00000462980.1:n.670C>A
ENST00000491610.1:n.728C>A
NM_000884.2:c.768C>A	NP_000875.2:p.Asp256Glu
XM_006713128.2:c.978C>A	XP_006713191.1:p.Asp326Glu
XM_006713128.3:c.978C>A	XP_006713191.1:p.Asp326Glu
XM_017006349.1:c.903C>A	XP_016861838.1:p.Asp301Glu
XM_017006350.1:c.903C>A	XP_016861839.1:p.Asp301Glu
NM_000884.3:c.768C>A MANE Select	NP_000875.2:p.Asp256Glu