Canonical Allele Identifier: CA2390617
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs753258609
gnomAD v2: 3-49064191-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026758T>C , CM000665.2:g.49026758T>C GRCh38
NC_000003.11:g.49064191T>C , CM000665.1:g.49064191T>C GRCh37
NC_000003.10:g.49039195T>C NCBI36
NG_012091.1:g.7685A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2788A>G ENSP00000515567.1:p.Ile930Val
ENST00000703937.1:c.*1849A>G ENSP00000515568.1:n.*1849A>G
ENST00000326739.9:c.748A>G MANE Select ENSP00000321584.4:p.Ile250Val
ENST00000429182.6:c.748A>G ENSP00000393525.2:p.Ile250Val
ENST00000442157.2:c.673A>G ENSP00000403502.2:p.Ile225Val
ENST00000462980.2:n.1263A>G
ENST00000472328.2:n.814A>G
ENST00000491610.2:n.708A>G
ENST00000676607.1:n.1044A>G
ENST00000676627.1:n.1478A>G
ENST00000676708.1:n.2028A>G
ENST00000676864.1:n.1897A>G
ENST00000677010.1:c.784A>G ENSP00000503089.1:p.Ile262Val
ENST00000677108.1:n.2654A>G
ENST00000677168.1:n.1220A>G
ENST00000677185.1:n.1311A>G
ENST00000677205.1:n.1532A>G
ENST00000677344.1:n.2022A>G
ENST00000677480.1:c.*425A>G ENSP00000504378.1:n.*425A>G
ENST00000677519.1:n.1458A>G
ENST00000677593.1:n.1304A>G
ENST00000677740.1:n.2253A>G
ENST00000677991.1:n.1921A>G
ENST00000678001.1:n.1241A>G
ENST00000678085.1:n.1304A>G
ENST00000678177.1:n.2597A>G
ENST00000678603.1:n.1826A>G
ENST00000678724.1:c.673A>G ENSP00000503874.1:p.Ile225Val
ENST00000678920.1:n.906A>G
ENST00000679019.1:n.1518A>G
ENST00000679117.1:c.*563A>G ENSP00000503240.1:n.*563A>G
ENST00000679339.1:n.1589A>G
ENST00000326739.8:c.748A>G ENSP00000321584.4:p.Ile250Val
ENST00000429182.5:c.542A>G
ENST00000442157.1:c.673A>G ENSP00000403502.1:p.Ile225Val
ENST00000462980.1:n.650A>G
ENST00000491610.1:n.708A>G
NM_000884.2:c.748A>G NP_000875.2:p.Ile250Val
XM_006713128.2:c.958A>G XP_006713191.1:p.Ile320Val
XM_006713128.3:c.958A>G XP_006713191.1:p.Ile320Val
XM_017006349.1:c.883A>G XP_016861838.1:p.Ile295Val
XM_017006350.1:c.883A>G XP_016861839.1:p.Ile295Val
NM_000884.3:c.748A>G MANE Select NP_000875.2:p.Ile250Val