Canonical Allele Identifier: CA1047703643

Gene: IMPDH2

Linked Data

• dbSNP Id: rs2093201488
• gnomAD v3: 3-49026763-GC-G
• gnomAD v4: 3-49026763-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026767del , CM000665.2:g.49026767del	GRCh38
NC_000003.11:g.49064200del , CM000665.1:g.49064200del	GRCh37
NC_000003.10:g.49039204del	NCBI36
NG_012091.1:g.7679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2782del	ENSP00000515567.1:p.Ala928GlnfsTer23
ENST00000703937.1:c.*1843del	ENSP00000515568.1:n.*1843del
ENST00000326739.9:c.742del MANE Select	ENSP00000321584.4:p.Ala248GlnfsTer23
ENST00000429182.6:c.742del	ENSP00000393525.2:p.Ala248GlnfsTer23
ENST00000442157.2:c.667del	ENSP00000403502.2:p.Ala223GlnfsTer23
ENST00000462980.2:n.1257del
ENST00000472328.2:n.808del
ENST00000491610.2:n.702del
ENST00000676607.1:n.1038del
ENST00000676627.1:n.1472del
ENST00000676708.1:n.2022del
ENST00000676864.1:n.1891del
ENST00000677010.1:c.778del	ENSP00000503089.1:p.Ala260GlnfsTer23
ENST00000677108.1:n.2648del
ENST00000677168.1:n.1214del
ENST00000677185.1:n.1305del
ENST00000677205.1:n.1526del
ENST00000677344.1:n.2016del
ENST00000677480.1:c.*419del	ENSP00000504378.1:n.*419del
ENST00000677519.1:n.1452del
ENST00000677593.1:n.1298del
ENST00000677740.1:n.2247del
ENST00000677991.1:n.1915del
ENST00000678001.1:n.1235del
ENST00000678085.1:n.1298del
ENST00000678177.1:n.2591del
ENST00000678603.1:n.1820del
ENST00000678724.1:c.667del	ENSP00000503874.1:p.Ala223GlnfsTer23
ENST00000678920.1:n.900del
ENST00000679019.1:n.1512del
ENST00000679117.1:c.*557del	ENSP00000503240.1:n.*557del
ENST00000679339.1:n.1583del
ENST00000326739.8:c.742del	ENSP00000321584.4:p.Ala248GlnfsTer23
ENST00000429182.5:c.536del
ENST00000442157.1:c.667del	ENSP00000403502.1:p.Ala223GlnfsTer23
ENST00000462980.1:n.644del
ENST00000491610.1:n.702del
NM_000884.2:c.742del	NP_000875.2:p.Ala248GlnfsTer23
XM_006713128.2:c.952del	XP_006713191.1:p.Ala318GlnfsTer23
XM_006713128.3:c.952del	XP_006713191.1:p.Ala318GlnfsTer23
XM_017006349.1:c.877del	XP_016861838.1:p.Ala293GlnfsTer23
XM_017006350.1:c.877del	XP_016861839.1:p.Ala293GlnfsTer23
NM_000884.3:c.742del MANE Select	NP_000875.2:p.Ala248GlnfsTer23