Canonical Allele Identifier: CA352740607

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064245C>A (hg19) ; chr3:g.49026812C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026812C>A , CM000665.2:g.49026812C>A	GRCh38
NC_000003.11:g.49064245C>A , CM000665.1:g.49064245C>A	GRCh37
NC_000003.10:g.49039249C>A	NCBI36
NG_012091.1:g.7631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2734G>T	ENSP00000515567.1:p.Asp912Tyr
ENST00000703937.1:c.*1795G>T	ENSP00000515568.1:n.*1795G>T
ENST00000326739.9:c.694G>T MANE Select	ENSP00000321584.4:p.Asp232Tyr
ENST00000429182.6:c.694G>T	ENSP00000393525.2:p.Asp232Tyr
ENST00000442157.2:c.619G>T	ENSP00000403502.2:p.Asp207Tyr
ENST00000462980.2:n.1209G>T
ENST00000472328.2:n.760G>T
ENST00000491610.2:n.654G>T
ENST00000676607.1:n.990G>T
ENST00000676627.1:n.1424G>T
ENST00000676708.1:n.1974G>T
ENST00000676864.1:n.1843G>T
ENST00000677010.1:c.730G>T	ENSP00000503089.1:p.Asp244Tyr
ENST00000677108.1:n.2600G>T
ENST00000677168.1:n.1166G>T
ENST00000677185.1:n.1257G>T
ENST00000677205.1:n.1478G>T
ENST00000677344.1:n.1968G>T
ENST00000677480.1:c.*371G>T	ENSP00000504378.1:n.*371G>T
ENST00000677519.1:n.1404G>T
ENST00000677593.1:n.1250G>T
ENST00000677740.1:n.2199G>T
ENST00000677991.1:n.1867G>T
ENST00000678001.1:n.1187G>T
ENST00000678085.1:n.1250G>T
ENST00000678177.1:n.2543G>T
ENST00000678603.1:n.1772G>T
ENST00000678724.1:c.619G>T	ENSP00000503874.1:p.Asp207Tyr
ENST00000678920.1:n.852G>T
ENST00000679019.1:n.1464G>T
ENST00000679117.1:c.*509G>T	ENSP00000503240.1:n.*509G>T
ENST00000679339.1:n.1535G>T
ENST00000326739.8:c.694G>T	ENSP00000321584.4:p.Asp232Tyr
ENST00000429182.5:c.488G>T
ENST00000442157.1:c.619G>T	ENSP00000403502.1:p.Asp207Tyr
ENST00000462980.1:n.596G>T
ENST00000491610.1:n.654G>T
NM_000884.2:c.694G>T	NP_000875.2:p.Asp232Tyr
XM_006713128.2:c.904G>T	XP_006713191.1:p.Asp302Tyr
XM_006713128.3:c.904G>T	XP_006713191.1:p.Asp302Tyr
XM_017006349.1:c.829G>T	XP_016861838.1:p.Asp277Tyr
XM_017006350.1:c.829G>T	XP_016861839.1:p.Asp277Tyr
NM_000884.3:c.694G>T MANE Select	NP_000875.2:p.Asp232Tyr