Canonical Allele Identifier: CA2756171546
Gene: IMPDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026693_49026694insCA , CM000665.2:g.49026693_49026694insCA GRCh38
NC_000003.11:g.49064126_49064127insCA , CM000665.1:g.49064126_49064127insCA GRCh37
NC_000003.10:g.49039130_49039131insCA NCBI36
NG_012091.1:g.7749_7750insTG

Transcript Alleles

HGVS Amino-acid change
ENST00000703936.1:c.2852_2853insTG ENSP00000515567.1:p.Val952GlyfsTer16
ENST00000703937.1:c.*1913_*1914insTG ENSP00000515568.1:n.*1913_*1914insTG
ENST00000326739.9:c.812_813insTG MANE Select ENSP00000321584.4:p.Val272GlyfsTer16
ENST00000429182.6:c.812_813insTG ENSP00000393525.2:p.Val272GlyfsTer16
ENST00000442157.2:c.737_738insTG ENSP00000403502.2:p.Val247GlyfsTer16
ENST00000462980.2:n.1327_1328insTG
ENST00000472328.2:n.878_879insTG
ENST00000491610.2:n.772_773insTG
ENST00000676607.1:n.1108_1109insTG
ENST00000676627.1:n.1542_1543insTG
ENST00000676708.1:n.2092_2093insTG
ENST00000676864.1:n.1961_1962insTG
ENST00000677010.1:c.848_849insTG ENSP00000503089.1:p.Val284GlyfsTer12
ENST00000677108.1:n.2718_2719insTG
ENST00000677168.1:n.1284_1285insTG
ENST00000677185.1:n.1375_1376insTG
ENST00000677205.1:n.1596_1597insTG
ENST00000677344.1:n.2086_2087insTG
ENST00000677480.1:c.*489_*490insTG ENSP00000504378.1:n.*489_*490insTG
ENST00000677519.1:n.1522_1523insTG
ENST00000677593.1:n.1368_1369insTG
ENST00000677740.1:n.2317_2318insTG
ENST00000677991.1:n.1985_1986insTG
ENST00000678001.1:n.1305_1306insTG
ENST00000678085.1:n.1368_1369insTG
ENST00000678177.1:n.2661_2662insTG
ENST00000678603.1:n.1890_1891insTG
ENST00000678724.1:c.737_738insTG ENSP00000503874.1:p.Val247GlyfsTer16
ENST00000678920.1:n.970_971insTG
ENST00000679019.1:n.1582_1583insTG
ENST00000679117.1:c.*627_*628insTG ENSP00000503240.1:n.*627_*628insTG
ENST00000679339.1:n.1653_1654insTG
ENST00000326739.8:c.812_813insTG ENSP00000321584.4:p.Val272GlyfsTer16
ENST00000429182.5:c.606_607insTG
ENST00000442157.1:c.737_738insTG ENSP00000403502.1:p.Val247GlyfsTer16
ENST00000462980.1:n.714_715insTG
ENST00000491610.1:n.772_773insTG
NM_000884.2:c.812_813insTG NP_000875.2:p.Val272GlyfsTer16
XM_006713128.2:c.1022_1023insTG XP_006713191.1:p.Val342GlyfsTer16
XM_006713128.3:c.1022_1023insTG XP_006713191.1:p.Val342GlyfsTer16
XM_017006349.1:c.947_948insTG XP_016861838.1:p.Val317GlyfsTer16
XM_017006350.1:c.947_948insTG XP_016861839.1:p.Val317GlyfsTer16
NM_000884.3:c.812_813insTG MANE Select NP_000875.2:p.Val272GlyfsTer16