Canonical Allele Identifier: CA543047628
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs1361786552
gnomAD v2: 3-49064111-G-A
gnomAD v3: 3-49026678-G-A
gnomAD v4: 3-49026678-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026678G>A , CM000665.2:g.49026678G>A GRCh38
NC_000003.11:g.49064111G>A , CM000665.1:g.49064111G>A GRCh37
NC_000003.10:g.49039115G>A NCBI36
NG_012091.1:g.7765C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703936.1:c.2859+9C>T ENSP00000515567.1:n.2859+9C>T
ENST00000703937.1:c.*1920+9C>T ENSP00000515568.1:n.*1920+9C>T
ENST00000326739.9:c.819+9C>T MANE Select ENSP00000321584.4:n.819+9C>T
ENST00000429182.6:c.819+9C>T ENSP00000393525.2:n.819+9C>T
ENST00000442157.2:c.744+9C>T ENSP00000403502.2:n.744+9C>T
ENST00000462980.2:n.1334+9C>T
ENST00000472328.2:n.885+9C>T
ENST00000491610.2:n.779+9C>T
ENST00000676607.1:n.1115+9C>T
ENST00000676627.1:n.1549+9C>T
ENST00000676708.1:n.2099+9C>T
ENST00000676864.1:n.1968+9C>T
ENST00000677010.1:c.855+9C>T ENSP00000503089.1:n.855+9C>T
ENST00000677108.1:n.2734C>T
ENST00000677168.1:n.1291+9C>T
ENST00000677185.1:n.1382+9C>T
ENST00000677205.1:n.1603+9C>T
ENST00000677344.1:n.2093+9C>T
ENST00000677480.1:c.*496+9C>T ENSP00000504378.1:n.*496+9C>T
ENST00000677519.1:n.1529+9C>T
ENST00000677593.1:n.1375+9C>T
ENST00000677740.1:n.2324+9C>T
ENST00000677991.1:n.1992+9C>T
ENST00000678001.1:n.1312+9C>T
ENST00000678085.1:n.1384C>T
ENST00000678177.1:n.2677C>T
ENST00000678603.1:n.1897+9C>T
ENST00000678724.1:c.744+9C>T ENSP00000503874.1:n.744+9C>T
ENST00000678920.1:n.977+9C>T
ENST00000679019.1:n.1598C>T
ENST00000679117.1:c.*634+9C>T ENSP00000503240.1:n.*634+9C>T
ENST00000679339.1:n.1660+9C>T
ENST00000326739.8:c.819+9C>T ENSP00000321584.4:n.819+9C>T
ENST00000429182.5:c.613+9C>T
ENST00000442157.1:c.744+9C>T ENSP00000403502.1:n.744+9C>T
ENST00000462980.1:n.721+9C>T
ENST00000491610.1:n.779+9C>T
NM_000884.2:c.819+9C>T NP_000875.2:n.819+9C>T
XM_006713128.2:c.1029+9C>T XP_006713191.1:n.1029+9C>T
XM_006713128.3:c.1029+9C>T XP_006713191.1:n.1029+9C>T
XM_017006349.1:c.954+9C>T XP_016861838.1:n.954+9C>T
XM_017006350.1:c.954+9C>T XP_016861839.1:n.954+9C>T
NM_000884.3:c.819+9C>T MANE Select NP_000875.2:n.819+9C>T