Canonical Allele Identifier: CA433629520

Gene: IMPDH2

Linked Data

• dbSNP Id: rs2093201298
• gnomAD v3: 3-49026735-C-T
• gnomAD v4: 3-49026735-C-T
• MyVariant Identifiers: chr3:g.49064168C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026735C>T , CM000665.2:g.49026735C>T	GRCh38
NC_000003.11:g.49064168C>T , CM000665.1:g.49064168C>T	GRCh37
NC_000003.10:g.49039172C>T	NCBI36
NG_012091.1:g.7708G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2811G>A	ENSP00000515567.1:p.Lys937=
ENST00000703937.1:c.*1872G>A	ENSP00000515568.1:n.*1872G>A
ENST00000326739.9:c.771G>A MANE Select	ENSP00000321584.4:p.Lys257=
ENST00000429182.6:c.771G>A	ENSP00000393525.2:p.Lys257=
ENST00000442157.2:c.696G>A	ENSP00000403502.2:p.Lys232=
ENST00000462980.2:n.1286G>A
ENST00000472328.2:n.837G>A
ENST00000491610.2:n.731G>A
ENST00000676607.1:n.1067G>A
ENST00000676627.1:n.1501G>A
ENST00000676708.1:n.2051G>A
ENST00000676864.1:n.1920G>A
ENST00000677010.1:c.807G>A	ENSP00000503089.1:p.Lys269=
ENST00000677108.1:n.2677G>A
ENST00000677168.1:n.1243G>A
ENST00000677185.1:n.1334G>A
ENST00000677205.1:n.1555G>A
ENST00000677344.1:n.2045G>A
ENST00000677480.1:c.*448G>A	ENSP00000504378.1:n.*448G>A
ENST00000677519.1:n.1481G>A
ENST00000677593.1:n.1327G>A
ENST00000677740.1:n.2276G>A
ENST00000677991.1:n.1944G>A
ENST00000678001.1:n.1264G>A
ENST00000678085.1:n.1327G>A
ENST00000678177.1:n.2620G>A
ENST00000678603.1:n.1849G>A
ENST00000678724.1:c.696G>A	ENSP00000503874.1:p.Lys232=
ENST00000678920.1:n.929G>A
ENST00000679019.1:n.1541G>A
ENST00000679117.1:c.*586G>A	ENSP00000503240.1:n.*586G>A
ENST00000679339.1:n.1612G>A
ENST00000326739.8:c.771G>A	ENSP00000321584.4:p.Lys257=
ENST00000429182.5:c.565G>A
ENST00000442157.1:c.696G>A	ENSP00000403502.1:p.Lys232=
ENST00000462980.1:n.673G>A
ENST00000491610.1:n.731G>A
NM_000884.2:c.771G>A	NP_000875.2:p.Lys257=
XM_006713128.2:c.981G>A	XP_006713191.1:p.Lys327=
XM_006713128.3:c.981G>A	XP_006713191.1:p.Lys327=
XM_017006349.1:c.906G>A	XP_016861838.1:p.Lys302=
XM_017006350.1:c.906G>A	XP_016861839.1:p.Lys302=
NM_000884.3:c.771G>A MANE Select	NP_000875.2:p.Lys257=