Canonical Allele Identifier: CA352739861
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026703-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026703A>C , CM000665.2:g.49026703A>C GRCh38
NC_000003.11:g.49064136A>C , CM000665.1:g.49064136A>C GRCh37
NC_000003.10:g.49039140A>C NCBI36
NG_012091.1:g.7740T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2843T>G ENSP00000515567.1:p.Val948Gly
ENST00000703937.1:c.*1904T>G ENSP00000515568.1:n.*1904T>G
ENST00000326739.9:c.803T>G MANE Select ENSP00000321584.4:p.Val268Gly
ENST00000429182.6:c.803T>G ENSP00000393525.2:p.Val268Gly
ENST00000442157.2:c.728T>G ENSP00000403502.2:p.Val243Gly
ENST00000462980.2:n.1318T>G
ENST00000472328.2:n.869T>G
ENST00000491610.2:n.763T>G
ENST00000676607.1:n.1099T>G
ENST00000676627.1:n.1533T>G
ENST00000676708.1:n.2083T>G
ENST00000676864.1:n.1952T>G
ENST00000677010.1:c.839T>G ENSP00000503089.1:p.Val280Gly
ENST00000677108.1:n.2709T>G
ENST00000677168.1:n.1275T>G
ENST00000677185.1:n.1366T>G
ENST00000677205.1:n.1587T>G
ENST00000677344.1:n.2077T>G
ENST00000677480.1:c.*480T>G ENSP00000504378.1:n.*480T>G
ENST00000677519.1:n.1513T>G
ENST00000677593.1:n.1359T>G
ENST00000677740.1:n.2308T>G
ENST00000677991.1:n.1976T>G
ENST00000678001.1:n.1296T>G
ENST00000678085.1:n.1359T>G
ENST00000678177.1:n.2652T>G
ENST00000678603.1:n.1881T>G
ENST00000678724.1:c.728T>G ENSP00000503874.1:p.Val243Gly
ENST00000678920.1:n.961T>G
ENST00000679019.1:n.1573T>G
ENST00000679117.1:c.*618T>G ENSP00000503240.1:n.*618T>G
ENST00000679339.1:n.1644T>G
ENST00000326739.8:c.803T>G ENSP00000321584.4:p.Val268Gly
ENST00000429182.5:c.597T>G
ENST00000442157.1:c.728T>G ENSP00000403502.1:p.Val243Gly
ENST00000462980.1:n.705T>G
ENST00000491610.1:n.763T>G
NM_000884.2:c.803T>G NP_000875.2:p.Val268Gly
XM_006713128.2:c.1013T>G XP_006713191.1:p.Val338Gly
XM_006713128.3:c.1013T>G XP_006713191.1:p.Val338Gly
XM_017006349.1:c.938T>G XP_016861838.1:p.Val313Gly
XM_017006350.1:c.938T>G XP_016861839.1:p.Val313Gly
NM_000884.3:c.803T>G MANE Select NP_000875.2:p.Val268Gly