Canonical Allele Identifier: CA433629622

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026825-C-A
• MyVariant Identifiers: chr3:g.49064258C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026825C>A , CM000665.2:g.49026825C>A	GRCh38
NC_000003.11:g.49064258C>A , CM000665.1:g.49064258C>A	GRCh37
NC_000003.10:g.49039262C>A	NCBI36
NG_012091.1:g.7618G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2721G>T	ENSP00000515567.1:p.Leu907=
ENST00000703937.1:c.*1782G>T	ENSP00000515568.1:n.*1782G>T
ENST00000326739.9:c.681G>T MANE Select	ENSP00000321584.4:p.Leu227=
ENST00000429182.6:c.681G>T	ENSP00000393525.2:p.Leu227=
ENST00000442157.2:c.606G>T	ENSP00000403502.2:p.Leu202=
ENST00000462980.2:n.1196G>T
ENST00000472328.2:n.747G>T
ENST00000491610.2:n.641G>T
ENST00000676607.1:n.977G>T
ENST00000676627.1:n.1411G>T
ENST00000676708.1:n.1961G>T
ENST00000676864.1:n.1830G>T
ENST00000677010.1:c.717G>T	ENSP00000503089.1:p.Leu239=
ENST00000677108.1:n.2587G>T
ENST00000677168.1:n.1153G>T
ENST00000677185.1:n.1244G>T
ENST00000677205.1:n.1465G>T
ENST00000677344.1:n.1955G>T
ENST00000677480.1:c.*358G>T	ENSP00000504378.1:n.*358G>T
ENST00000677519.1:n.1391G>T
ENST00000677593.1:n.1237G>T
ENST00000677740.1:n.2186G>T
ENST00000677991.1:n.1854G>T
ENST00000678001.1:n.1174G>T
ENST00000678085.1:n.1237G>T
ENST00000678177.1:n.2530G>T
ENST00000678603.1:n.1759G>T
ENST00000678724.1:c.606G>T	ENSP00000503874.1:p.Leu202=
ENST00000678920.1:n.839G>T
ENST00000679019.1:n.1451G>T
ENST00000679117.1:c.*496G>T	ENSP00000503240.1:n.*496G>T
ENST00000679339.1:n.1522G>T
ENST00000326739.8:c.681G>T	ENSP00000321584.4:p.Leu227=
ENST00000429182.5:c.475G>T
ENST00000442157.1:c.606G>T	ENSP00000403502.1:p.Leu202=
ENST00000462980.1:n.583G>T
ENST00000491610.1:n.641G>T
NM_000884.2:c.681G>T	NP_000875.2:p.Leu227=
XM_006713128.2:c.891G>T	XP_006713191.1:p.Leu297=
XM_006713128.3:c.891G>T	XP_006713191.1:p.Leu297=
XM_017006349.1:c.816G>T	XP_016861838.1:p.Leu272=
XM_017006350.1:c.816G>T	XP_016861839.1:p.Leu272=
NM_000884.3:c.681G>T MANE Select	NP_000875.2:p.Leu227=