Canonical Allele Identifier: CA433629677
Gene: IMPDH2 HGNC NCBI

Linked Data

dbSNP Id: rs1575310261
MyVariant Identifiers: chr3:g.49064282C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49026849C>T , CM000665.2:g.49026849C>T GRCh38
NC_000003.11:g.49064282C>T , CM000665.1:g.49064282C>T GRCh37
NC_000003.10:g.49039286C>T NCBI36
NG_012091.1:g.7594G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703936.1:c.2697G>A ENSP00000515567.1:p.Val899=
ENST00000703937.1:c.*1758G>A ENSP00000515568.1:n.*1758G>A
ENST00000326739.9:c.657G>A MANE Select ENSP00000321584.4:p.Val219=
ENST00000429182.6:c.657G>A ENSP00000393525.2:p.Val219=
ENST00000442157.2:c.582G>A ENSP00000403502.2:p.Val194=
ENST00000462980.2:n.1172G>A
ENST00000472328.2:n.723G>A
ENST00000491610.2:n.617G>A
ENST00000676607.1:n.953G>A
ENST00000676627.1:n.1387G>A
ENST00000676708.1:n.1937G>A
ENST00000676864.1:n.1806G>A
ENST00000677010.1:c.693G>A ENSP00000503089.1:p.Val231=
ENST00000677108.1:n.2563G>A
ENST00000677168.1:n.1129G>A
ENST00000677185.1:n.1220G>A
ENST00000677205.1:n.1441G>A
ENST00000677344.1:n.1931G>A
ENST00000677480.1:c.*334G>A ENSP00000504378.1:n.*334G>A
ENST00000677519.1:n.1367G>A
ENST00000677593.1:n.1213G>A
ENST00000677740.1:n.2162G>A
ENST00000677991.1:n.1830G>A
ENST00000678001.1:n.1150G>A
ENST00000678085.1:n.1213G>A
ENST00000678177.1:n.2506G>A
ENST00000678603.1:n.1735G>A
ENST00000678724.1:c.582G>A ENSP00000503874.1:p.Val194=
ENST00000678920.1:n.815G>A
ENST00000679019.1:n.1427G>A
ENST00000679117.1:c.*472G>A ENSP00000503240.1:n.*472G>A
ENST00000679339.1:n.1498G>A
ENST00000326739.8:c.657G>A ENSP00000321584.4:p.Val219=
ENST00000429182.5:c.451G>A
ENST00000442157.1:c.582G>A ENSP00000403502.1:p.Val194=
ENST00000462980.1:n.559G>A
ENST00000491610.1:n.617G>A
NM_000884.2:c.657G>A NP_000875.2:p.Val219=
XM_006713128.2:c.867G>A XP_006713191.1:p.Val289=
XM_006713128.3:c.867G>A XP_006713191.1:p.Val289=
XM_017006349.1:c.792G>A XP_016861838.1:p.Val264=
XM_017006350.1:c.792G>A XP_016861839.1:p.Val264=
NM_000884.3:c.657G>A MANE Select NP_000875.2:p.Val219=