Canonical Allele Identifier: CA433629664
Gene: IMPDH2 HGNC NCBI

Linked Data

gnomAD v4: 3-49026843-G-T
MyVariant Identifiers: chr3:g.49064276G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026843G>T , CM000665.2:g.49026843G>T GRCh38
NC_000003.11:g.49064276G>T , CM000665.1:g.49064276G>T GRCh37
NC_000003.10:g.49039280G>T NCBI36
NG_012091.1:g.7600C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2703C>A ENSP00000515567.1:p.Ile901=
ENST00000703937.1:c.*1764C>A ENSP00000515568.1:n.*1764C>A
ENST00000326739.9:c.663C>A MANE Select ENSP00000321584.4:p.Ile221=
ENST00000429182.6:c.663C>A ENSP00000393525.2:p.Ile221=
ENST00000442157.2:c.588C>A ENSP00000403502.2:p.Ile196=
ENST00000462980.2:n.1178C>A
ENST00000472328.2:n.729C>A
ENST00000491610.2:n.623C>A
ENST00000676607.1:n.959C>A
ENST00000676627.1:n.1393C>A
ENST00000676708.1:n.1943C>A
ENST00000676864.1:n.1812C>A
ENST00000677010.1:c.699C>A ENSP00000503089.1:p.Ile233=
ENST00000677108.1:n.2569C>A
ENST00000677168.1:n.1135C>A
ENST00000677185.1:n.1226C>A
ENST00000677205.1:n.1447C>A
ENST00000677344.1:n.1937C>A
ENST00000677480.1:c.*340C>A ENSP00000504378.1:n.*340C>A
ENST00000677519.1:n.1373C>A
ENST00000677593.1:n.1219C>A
ENST00000677740.1:n.2168C>A
ENST00000677991.1:n.1836C>A
ENST00000678001.1:n.1156C>A
ENST00000678085.1:n.1219C>A
ENST00000678177.1:n.2512C>A
ENST00000678603.1:n.1741C>A
ENST00000678724.1:c.588C>A ENSP00000503874.1:p.Ile196=
ENST00000678920.1:n.821C>A
ENST00000679019.1:n.1433C>A
ENST00000679117.1:c.*478C>A ENSP00000503240.1:n.*478C>A
ENST00000679339.1:n.1504C>A
ENST00000326739.8:c.663C>A ENSP00000321584.4:p.Ile221=
ENST00000429182.5:c.457C>A
ENST00000442157.1:c.588C>A ENSP00000403502.1:p.Ile196=
ENST00000462980.1:n.565C>A
ENST00000491610.1:n.623C>A
NM_000884.2:c.663C>A NP_000875.2:p.Ile221=
XM_006713128.2:c.873C>A XP_006713191.1:p.Ile291=
XM_006713128.3:c.873C>A XP_006713191.1:p.Ile291=
XM_017006349.1:c.798C>A XP_016861838.1:p.Ile266=
XM_017006350.1:c.798C>A XP_016861839.1:p.Ile266=
NM_000884.3:c.663C>A MANE Select NP_000875.2:p.Ile221=