Canonical Allele Identifier: CA2577592928

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026687-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026691del , CM000665.2:g.49026691del	GRCh38
NC_000003.11:g.49064124del , CM000665.1:g.49064124del	GRCh37
NC_000003.10:g.49039128del	NCBI36
NG_012091.1:g.7755del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2858del	ENSP00000515567.1:p.Leu953TrpfsTer14
ENST00000703937.1:c.*1919del	ENSP00000515568.1:n.*1919del
ENST00000326739.9:c.818del MANE Select	ENSP00000321584.4:p.Leu273TrpfsTer14
ENST00000429182.6:c.818del	ENSP00000393525.2:p.Leu273TrpfsTer14
ENST00000442157.2:c.743del	ENSP00000403502.2:p.Leu248TrpfsTer14
ENST00000462980.2:n.1333del
ENST00000472328.2:n.884del
ENST00000491610.2:n.778del
ENST00000676607.1:n.1114del
ENST00000676627.1:n.1548del
ENST00000676708.1:n.2098del
ENST00000676864.1:n.1967del
ENST00000677010.1:c.854del	ENSP00000503089.1:p.Leu285TrpfsTer10
ENST00000677108.1:n.2724del
ENST00000677168.1:n.1290del
ENST00000677185.1:n.1381del
ENST00000677205.1:n.1602del
ENST00000677344.1:n.2092del
ENST00000677480.1:c.*495del	ENSP00000504378.1:n.*495del
ENST00000677519.1:n.1528del
ENST00000677593.1:n.1374del
ENST00000677740.1:n.2323del
ENST00000677991.1:n.1991del
ENST00000678001.1:n.1311del
ENST00000678085.1:n.1374del
ENST00000678177.1:n.2667del
ENST00000678603.1:n.1896del
ENST00000678724.1:c.743del	ENSP00000503874.1:p.Leu248TrpfsTer14
ENST00000678920.1:n.976del
ENST00000679019.1:n.1588del
ENST00000679117.1:c.*633del	ENSP00000503240.1:n.*633del
ENST00000679339.1:n.1659del
ENST00000326739.8:c.818del	ENSP00000321584.4:p.Leu273TrpfsTer14
ENST00000429182.5:c.612del
ENST00000442157.1:c.743del	ENSP00000403502.1:p.Leu248TrpfsTer14
ENST00000462980.1:n.720del
ENST00000491610.1:n.778del
NM_000884.2:c.818del	NP_000875.2:p.Leu273TrpfsTer14
XM_006713128.2:c.1028del	XP_006713191.1:p.Leu343TrpfsTer14
XM_006713128.3:c.1028del	XP_006713191.1:p.Leu343TrpfsTer14
XM_017006349.1:c.953del	XP_016861838.1:p.Leu318TrpfsTer14
XM_017006350.1:c.953del	XP_016861839.1:p.Leu318TrpfsTer14
NM_000884.3:c.818del MANE Select	NP_000875.2:p.Leu273TrpfsTer14