Canonical Allele Identifier: CA433629564
Gene: IMPDH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49064207C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026774C>A , CM000665.2:g.49026774C>A GRCh38
NC_000003.11:g.49064207C>A , CM000665.1:g.49064207C>A GRCh37
NC_000003.10:g.49039211C>A NCBI36
NG_012091.1:g.7669G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2772G>T ENSP00000515567.1:p.Leu924=
ENST00000703937.1:c.*1833G>T ENSP00000515568.1:n.*1833G>T
ENST00000326739.9:c.732G>T MANE Select ENSP00000321584.4:p.Leu244=
ENST00000429182.6:c.732G>T ENSP00000393525.2:p.Leu244=
ENST00000442157.2:c.657G>T ENSP00000403502.2:p.Leu219=
ENST00000462980.2:n.1247G>T
ENST00000472328.2:n.798G>T
ENST00000491610.2:n.692G>T
ENST00000676607.1:n.1028G>T
ENST00000676627.1:n.1462G>T
ENST00000676708.1:n.2012G>T
ENST00000676864.1:n.1881G>T
ENST00000677010.1:c.768G>T ENSP00000503089.1:p.Leu256=
ENST00000677108.1:n.2638G>T
ENST00000677168.1:n.1204G>T
ENST00000677185.1:n.1295G>T
ENST00000677205.1:n.1516G>T
ENST00000677344.1:n.2006G>T
ENST00000677480.1:c.*409G>T ENSP00000504378.1:n.*409G>T
ENST00000677519.1:n.1442G>T
ENST00000677593.1:n.1288G>T
ENST00000677740.1:n.2237G>T
ENST00000677991.1:n.1905G>T
ENST00000678001.1:n.1225G>T
ENST00000678085.1:n.1288G>T
ENST00000678177.1:n.2581G>T
ENST00000678603.1:n.1810G>T
ENST00000678724.1:c.657G>T ENSP00000503874.1:p.Leu219=
ENST00000678920.1:n.890G>T
ENST00000679019.1:n.1502G>T
ENST00000679117.1:c.*547G>T ENSP00000503240.1:n.*547G>T
ENST00000679339.1:n.1573G>T
ENST00000326739.8:c.732G>T ENSP00000321584.4:p.Leu244=
ENST00000429182.5:c.526G>T
ENST00000442157.1:c.657G>T ENSP00000403502.1:p.Leu219=
ENST00000462980.1:n.634G>T
ENST00000491610.1:n.692G>T
NM_000884.2:c.732G>T NP_000875.2:p.Leu244=
XM_006713128.2:c.942G>T XP_006713191.1:p.Leu314=
XM_006713128.3:c.942G>T XP_006713191.1:p.Leu314=
XM_017006349.1:c.867G>T XP_016861838.1:p.Leu289=
XM_017006350.1:c.867G>T XP_016861839.1:p.Leu289=
NM_000884.3:c.732G>T MANE Select NP_000875.2:p.Leu244=