Canonical Allele Identifier: CA352739715
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026607-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026607G>C , CM000665.2:g.49026607G>C GRCh38
NC_000003.11:g.49064040G>C , CM000665.1:g.49064040G>C GRCh37
NC_000003.10:g.49039044G>C NCBI36
NG_012091.1:g.7836C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2862C>G ENSP00000515567.1:p.Asp954Glu
ENST00000703937.1:c.*1923C>G ENSP00000515568.1:n.*1923C>G
ENST00000326739.9:c.822C>G MANE Select ENSP00000321584.4:p.Asp274Glu
ENST00000429182.6:c.822C>G ENSP00000393525.2:p.Asp274Glu
ENST00000442157.2:c.747C>G ENSP00000403502.2:p.Asp249Glu
ENST00000462980.2:n.1337C>G
ENST00000472328.2:n.888C>G
ENST00000491610.2:n.782C>G
ENST00000676607.1:n.1118C>G
ENST00000676627.1:n.1552C>G
ENST00000676708.1:n.2102C>G
ENST00000676864.1:n.1971C>G
ENST00000677010.1:c.856-10C>G ENSP00000503089.1:n.856-10C>G
ENST00000677108.1:n.2805C>G
ENST00000677168.1:n.1294C>G
ENST00000677185.1:n.1385C>G
ENST00000677205.1:n.1606C>G
ENST00000677344.1:n.2096C>G
ENST00000677480.1:c.*499C>G ENSP00000504378.1:n.*499C>G
ENST00000677519.1:n.1532C>G
ENST00000677593.1:n.1378C>G
ENST00000677740.1:n.2327C>G
ENST00000677991.1:n.1995C>G
ENST00000678001.1:n.1315C>G
ENST00000678085.1:n.1455C>G
ENST00000678177.1:n.2748C>G
ENST00000678603.1:n.1900C>G
ENST00000678724.1:c.747C>G ENSP00000503874.1:p.Asp249Glu
ENST00000678920.1:n.980C>G
ENST00000679019.1:n.1669C>G
ENST00000679117.1:c.*637C>G ENSP00000503240.1:n.*637C>G
ENST00000679339.1:n.1663C>G
ENST00000326739.8:c.822C>G ENSP00000321584.4:p.Asp274Glu
ENST00000429182.5:c.616C>G
ENST00000442157.1:c.747C>G ENSP00000403502.1:p.Asp249Glu
ENST00000462980.1:n.724C>G
ENST00000491610.1:n.782C>G
NM_000884.2:c.822C>G NP_000875.2:p.Asp274Glu
XM_006713128.2:c.1032C>G XP_006713191.1:p.Asp344Glu
XM_006713128.3:c.1032C>G XP_006713191.1:p.Asp344Glu
XM_017006349.1:c.957C>G XP_016861838.1:p.Asp319Glu
XM_017006350.1:c.957C>G XP_016861839.1:p.Asp319Glu
NM_000884.3:c.822C>G MANE Select NP_000875.2:p.Asp274Glu