Canonical Allele Identifier: CA2390635

Gene: IMPDH2

Linked Data

• dbSNP Id: rs780697969
• ExAC: 3:49064308 TG / T
• gnomAD v2: 3-49064308-TG-T
• gnomAD v4: 3-49026875-TG-T
• MyVariant Identifiers: chr3:g.49064309del (hg19) ; chr3:g.49026876del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026878del , CM000665.2:g.49026878del	GRCh38
NC_000003.11:g.49064311del , CM000665.1:g.49064311del	GRCh37
NC_000003.10:g.49039315del	NCBI36
NG_012091.1:g.7567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2670del	ENSP00000515567.1:p.Ile891LeufsTer2
ENST00000703937.1:c.*1731del	ENSP00000515568.1:n.*1731del
ENST00000326739.9:c.630del MANE Select	ENSP00000321584.4:p.Ile211LeufsTer2
ENST00000429182.6:c.630del	ENSP00000393525.2:p.Ile211LeufsTer2
ENST00000442157.2:c.555del	ENSP00000403502.2:p.Ile186LeufsTer2
ENST00000462980.2:n.1145del
ENST00000472328.2:n.696del
ENST00000491610.2:n.590del
ENST00000676607.1:n.926del
ENST00000676627.1:n.1360del
ENST00000676708.1:n.1910del
ENST00000676864.1:n.1779del
ENST00000677010.1:c.666del	ENSP00000503089.1:p.Ile223LeufsTer2
ENST00000677108.1:n.2536del
ENST00000677168.1:n.1102del
ENST00000677185.1:n.1193del
ENST00000677205.1:n.1414del
ENST00000677344.1:n.1904del
ENST00000677480.1:c.*307del	ENSP00000504378.1:n.*307del
ENST00000677519.1:n.1340del
ENST00000677593.1:n.1186del
ENST00000677740.1:n.2135del
ENST00000677991.1:n.1803del
ENST00000678001.1:n.1123del
ENST00000678085.1:n.1186del
ENST00000678177.1:n.2479del
ENST00000678603.1:n.1708del
ENST00000678724.1:c.555del	ENSP00000503874.1:p.Ile186LeufsTer2
ENST00000678920.1:n.788del
ENST00000679019.1:n.1400del
ENST00000679117.1:c.*445del	ENSP00000503240.1:n.*445del
ENST00000679339.1:n.1471del
ENST00000326739.8:c.630del	ENSP00000321584.4:p.Ile211LeufsTer2
ENST00000429182.5:c.424del
ENST00000442157.1:c.555del	ENSP00000403502.1:p.Ile186LeufsTer2
ENST00000462980.1:n.532del
ENST00000491610.1:n.590del
NM_000884.2:c.630del	NP_000875.2:p.Ile211LeufsTer2
XM_006713128.2:c.840del	XP_006713191.1:p.Ile281LeufsTer2
XM_006713128.3:c.840del	XP_006713191.1:p.Ile281LeufsTer2
XM_017006349.1:c.765del	XP_016861838.1:p.Ile256LeufsTer2
XM_017006350.1:c.765del	XP_016861839.1:p.Ile256LeufsTer2
NM_000884.3:c.630del MANE Select	NP_000875.2:p.Ile211LeufsTer2