Canonical Allele Identifier: CA433629609
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026813-C-G
MyVariant Identifiers: chr3:g.49064246C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026813C>G , CM000665.2:g.49026813C>G GRCh38
NC_000003.11:g.49064246C>G , CM000665.1:g.49064246C>G GRCh37
NC_000003.10:g.49039250C>G NCBI36
NG_012091.1:g.7630G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2733G>C ENSP00000515567.1:p.Arg911=
ENST00000703937.1:c.*1794G>C ENSP00000515568.1:n.*1794G>C
ENST00000326739.9:c.693G>C MANE Select ENSP00000321584.4:p.Arg231=
ENST00000429182.6:c.693G>C ENSP00000393525.2:p.Arg231=
ENST00000442157.2:c.618G>C ENSP00000403502.2:p.Arg206=
ENST00000462980.2:n.1208G>C
ENST00000472328.2:n.759G>C
ENST00000491610.2:n.653G>C
ENST00000676607.1:n.989G>C
ENST00000676627.1:n.1423G>C
ENST00000676708.1:n.1973G>C
ENST00000676864.1:n.1842G>C
ENST00000677010.1:c.729G>C ENSP00000503089.1:p.Arg243=
ENST00000677108.1:n.2599G>C
ENST00000677168.1:n.1165G>C
ENST00000677185.1:n.1256G>C
ENST00000677205.1:n.1477G>C
ENST00000677344.1:n.1967G>C
ENST00000677480.1:c.*370G>C ENSP00000504378.1:n.*370G>C
ENST00000677519.1:n.1403G>C
ENST00000677593.1:n.1249G>C
ENST00000677740.1:n.2198G>C
ENST00000677991.1:n.1866G>C
ENST00000678001.1:n.1186G>C
ENST00000678085.1:n.1249G>C
ENST00000678177.1:n.2542G>C
ENST00000678603.1:n.1771G>C
ENST00000678724.1:c.618G>C ENSP00000503874.1:p.Arg206=
ENST00000678920.1:n.851G>C
ENST00000679019.1:n.1463G>C
ENST00000679117.1:c.*508G>C ENSP00000503240.1:n.*508G>C
ENST00000679339.1:n.1534G>C
ENST00000326739.8:c.693G>C ENSP00000321584.4:p.Arg231=
ENST00000429182.5:c.487G>C
ENST00000442157.1:c.618G>C ENSP00000403502.1:p.Arg206=
ENST00000462980.1:n.595G>C
ENST00000491610.1:n.653G>C
NM_000884.2:c.693G>C NP_000875.2:p.Arg231=
XM_006713128.2:c.903G>C XP_006713191.1:p.Arg301=
XM_006713128.3:c.903G>C XP_006713191.1:p.Arg301=
XM_017006349.1:c.828G>C XP_016861838.1:p.Arg276=
XM_017006350.1:c.828G>C XP_016861839.1:p.Arg276=
NM_000884.3:c.693G>C MANE Select NP_000875.2:p.Arg231=