Canonical Allele Identifier: CA433629726
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs1156495694
gnomAD v2: 3-49064314-A-G
gnomAD v4: 3-49026881-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026881A>G , CM000665.2:g.49026881A>G GRCh38
NC_000003.11:g.49064314A>G , CM000665.1:g.49064314A>G GRCh37
NC_000003.10:g.49039318A>G NCBI36
NG_012091.1:g.7562T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2665T>C ENSP00000515567.1:p.Leu889=
ENST00000703937.1:c.*1726T>C ENSP00000515568.1:n.*1726T>C
ENST00000326739.9:c.625T>C MANE Select ENSP00000321584.4:p.Leu209=
ENST00000429182.6:c.625T>C ENSP00000393525.2:p.Leu209=
ENST00000442157.2:c.550T>C ENSP00000403502.2:p.Leu184=
ENST00000462980.2:n.1140T>C
ENST00000472328.2:n.691T>C
ENST00000491610.2:n.585T>C
ENST00000676607.1:n.921T>C
ENST00000676627.1:n.1355T>C
ENST00000676708.1:n.1905T>C
ENST00000676864.1:n.1774T>C
ENST00000677010.1:c.661T>C ENSP00000503089.1:p.Leu221=
ENST00000677108.1:n.2531T>C
ENST00000677168.1:n.1097T>C
ENST00000677185.1:n.1188T>C
ENST00000677205.1:n.1409T>C
ENST00000677344.1:n.1899T>C
ENST00000677480.1:c.*302T>C ENSP00000504378.1:n.*302T>C
ENST00000677519.1:n.1335T>C
ENST00000677593.1:n.1181T>C
ENST00000677740.1:n.2130T>C
ENST00000677991.1:n.1798T>C
ENST00000678001.1:n.1118T>C
ENST00000678085.1:n.1181T>C
ENST00000678177.1:n.2474T>C
ENST00000678603.1:n.1703T>C
ENST00000678724.1:c.550T>C ENSP00000503874.1:p.Leu184=
ENST00000678920.1:n.783T>C
ENST00000679019.1:n.1395T>C
ENST00000679117.1:c.*440T>C ENSP00000503240.1:n.*440T>C
ENST00000679339.1:n.1466T>C
ENST00000326739.8:c.625T>C ENSP00000321584.4:p.Leu209=
ENST00000429182.5:c.419T>C
ENST00000442157.1:c.550T>C ENSP00000403502.1:p.Leu184=
ENST00000462980.1:n.527T>C
ENST00000491610.1:n.585T>C
NM_000884.2:c.625T>C NP_000875.2:p.Leu209=
XM_006713128.2:c.835T>C XP_006713191.1:p.Leu279=
XM_006713128.3:c.835T>C XP_006713191.1:p.Leu279=
XM_017006349.1:c.760T>C XP_016861838.1:p.Leu254=
XM_017006350.1:c.760T>C XP_016861839.1:p.Leu254=
NM_000884.3:c.625T>C MANE Select NP_000875.2:p.Leu209=