Canonical Allele Identifier: CA2390654

Gene: IMPDH2

Linked Data

• dbSNP Id: rs770527889
• ExAC: 3:49064397 C / T
• gnomAD v2: 3-49064397-C-T
• gnomAD v3: 3-49026964-C-T
• gnomAD v4: 3-49026964-C-T
• MyVariant Identifiers: chr3:g.49064397C>T (hg19) ; chr3:g.49026964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026964C>T , CM000665.2:g.49026964C>T	GRCh38
NC_000003.11:g.49064397C>T , CM000665.1:g.49064397C>T	GRCh37
NC_000003.10:g.49039401C>T	NCBI36
NG_012091.1:g.7479G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2655G>A	ENSP00000515567.1:p.Lys885=
ENST00000703937.1:c.*1716G>A	ENSP00000515568.1:n.*1716G>A
ENST00000326739.9:c.615G>A MANE Select	ENSP00000321584.4:p.Lys205=
ENST00000429182.6:c.615G>A	ENSP00000393525.2:p.Lys205=
ENST00000442157.2:c.540G>A	ENSP00000403502.2:p.Lys180=
ENST00000462980.2:n.1130G>A
ENST00000472328.2:n.681G>A
ENST00000491610.2:n.502G>A
ENST00000676607.1:n.911G>A
ENST00000676627.1:n.1345G>A
ENST00000676708.1:n.1822G>A
ENST00000676864.1:n.1691G>A
ENST00000677010.1:c.651G>A	ENSP00000503089.1:p.Lys217=
ENST00000677108.1:n.2448G>A
ENST00000677168.1:n.1087G>A
ENST00000677185.1:n.1105G>A
ENST00000677205.1:n.1326G>A
ENST00000677344.1:n.1816G>A
ENST00000677480.1:c.*292G>A	ENSP00000504378.1:n.*292G>A
ENST00000677519.1:n.1325G>A
ENST00000677593.1:n.1098G>A
ENST00000677740.1:n.2047G>A
ENST00000677991.1:n.1788G>A
ENST00000678001.1:n.1108G>A
ENST00000678085.1:n.1098G>A
ENST00000678177.1:n.2391G>A
ENST00000678603.1:n.1693G>A
ENST00000678724.1:c.540G>A	ENSP00000503874.1:p.Lys180=
ENST00000678920.1:n.773G>A
ENST00000679019.1:n.1312G>A
ENST00000679117.1:c.*430G>A	ENSP00000503240.1:n.*430G>A
ENST00000679339.1:n.1383G>A
ENST00000326739.8:c.615G>A	ENSP00000321584.4:p.Lys205=
ENST00000429182.5:c.409G>A
ENST00000442157.1:c.540G>A	ENSP00000403502.1:p.Lys180=
ENST00000462980.1:n.517G>A
ENST00000491610.1:n.502G>A
NM_000884.2:c.615G>A	NP_000875.2:p.Lys205=
XM_006713128.2:c.825G>A	XP_006713191.1:p.Lys275=
XM_006713128.3:c.825G>A	XP_006713191.1:p.Lys275=
XM_017006349.1:c.750G>A	XP_016861838.1:p.Lys250=
XM_017006350.1:c.750G>A	XP_016861839.1:p.Lys250=
NM_000884.3:c.615G>A MANE Select	NP_000875.2:p.Lys205=