Canonical Allele Identifier: CA2665685800

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026863-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026865del , CM000665.2:g.49026865del	GRCh38
NC_000003.11:g.49064298del , CM000665.1:g.49064298del	GRCh37
NC_000003.10:g.49039302del	NCBI36
NG_012091.1:g.7579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2682del	ENSP00000515567.1:p.Asp895MetfsTer13
ENST00000703937.1:c.*1743del	ENSP00000515568.1:n.*1743del
ENST00000326739.9:c.642del MANE Select	ENSP00000321584.4:p.Asp215MetfsTer13
ENST00000429182.6:c.642del	ENSP00000393525.2:p.Asp215MetfsTer13
ENST00000442157.2:c.567del	ENSP00000403502.2:p.Asp190MetfsTer13
ENST00000462980.2:n.1157del
ENST00000472328.2:n.708del
ENST00000491610.2:n.602del
ENST00000676607.1:n.938del
ENST00000676627.1:n.1372del
ENST00000676708.1:n.1922del
ENST00000676864.1:n.1791del
ENST00000677010.1:c.678del	ENSP00000503089.1:p.Asp227MetfsTer13
ENST00000677108.1:n.2548del
ENST00000677168.1:n.1114del
ENST00000677185.1:n.1205del
ENST00000677205.1:n.1426del
ENST00000677344.1:n.1916del
ENST00000677480.1:c.*319del	ENSP00000504378.1:n.*319del
ENST00000677519.1:n.1352del
ENST00000677593.1:n.1198del
ENST00000677740.1:n.2147del
ENST00000677991.1:n.1815del
ENST00000678001.1:n.1135del
ENST00000678085.1:n.1198del
ENST00000678177.1:n.2491del
ENST00000678603.1:n.1720del
ENST00000678724.1:c.567del	ENSP00000503874.1:p.Asp190MetfsTer13
ENST00000678920.1:n.800del
ENST00000679019.1:n.1412del
ENST00000679117.1:c.*457del	ENSP00000503240.1:n.*457del
ENST00000679339.1:n.1483del
ENST00000326739.8:c.642del	ENSP00000321584.4:p.Asp215MetfsTer13
ENST00000429182.5:c.436del
ENST00000442157.1:c.567del	ENSP00000403502.1:p.Asp190MetfsTer13
ENST00000462980.1:n.544del
ENST00000491610.1:n.602del
NM_000884.2:c.642del	NP_000875.2:p.Asp215MetfsTer13
XM_006713128.2:c.852del	XP_006713191.1:p.Asp285MetfsTer13
XM_006713128.3:c.852del	XP_006713191.1:p.Asp285MetfsTer13
XM_017006349.1:c.777del	XP_016861838.1:p.Asp260MetfsTer13
XM_017006350.1:c.777del	XP_016861839.1:p.Asp260MetfsTer13
NM_000884.3:c.642del MANE Select	NP_000875.2:p.Asp215MetfsTer13