Canonical Allele Identifier: CA352740759
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026827-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026827G>C , CM000665.2:g.49026827G>C GRCh38
NC_000003.11:g.49064260G>C , CM000665.1:g.49064260G>C GRCh37
NC_000003.10:g.49039264G>C NCBI36
NG_012091.1:g.7616C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2719C>G ENSP00000515567.1:p.Leu907Val
ENST00000703937.1:c.*1780C>G ENSP00000515568.1:n.*1780C>G
ENST00000326739.9:c.679C>G MANE Select ENSP00000321584.4:p.Leu227Val
ENST00000429182.6:c.679C>G ENSP00000393525.2:p.Leu227Val
ENST00000442157.2:c.604C>G ENSP00000403502.2:p.Leu202Val
ENST00000462980.2:n.1194C>G
ENST00000472328.2:n.745C>G
ENST00000491610.2:n.639C>G
ENST00000676607.1:n.975C>G
ENST00000676627.1:n.1409C>G
ENST00000676708.1:n.1959C>G
ENST00000676864.1:n.1828C>G
ENST00000677010.1:c.715C>G ENSP00000503089.1:p.Leu239Val
ENST00000677108.1:n.2585C>G
ENST00000677168.1:n.1151C>G
ENST00000677185.1:n.1242C>G
ENST00000677205.1:n.1463C>G
ENST00000677344.1:n.1953C>G
ENST00000677480.1:c.*356C>G ENSP00000504378.1:n.*356C>G
ENST00000677519.1:n.1389C>G
ENST00000677593.1:n.1235C>G
ENST00000677740.1:n.2184C>G
ENST00000677991.1:n.1852C>G
ENST00000678001.1:n.1172C>G
ENST00000678085.1:n.1235C>G
ENST00000678177.1:n.2528C>G
ENST00000678603.1:n.1757C>G
ENST00000678724.1:c.604C>G ENSP00000503874.1:p.Leu202Val
ENST00000678920.1:n.837C>G
ENST00000679019.1:n.1449C>G
ENST00000679117.1:c.*494C>G ENSP00000503240.1:n.*494C>G
ENST00000679339.1:n.1520C>G
ENST00000326739.8:c.679C>G ENSP00000321584.4:p.Leu227Val
ENST00000429182.5:c.473C>G
ENST00000442157.1:c.604C>G ENSP00000403502.1:p.Leu202Val
ENST00000462980.1:n.581C>G
ENST00000491610.1:n.639C>G
NM_000884.2:c.679C>G NP_000875.2:p.Leu227Val
XM_006713128.2:c.889C>G XP_006713191.1:p.Leu297Val
XM_006713128.3:c.889C>G XP_006713191.1:p.Leu297Val
XM_017006349.1:c.814C>G XP_016861838.1:p.Leu272Val
XM_017006350.1:c.814C>G XP_016861839.1:p.Leu272Val
NM_000884.3:c.679C>G MANE Select NP_000875.2:p.Leu227Val