Canonical Allele Identifier: CA352740387

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064215T>C (hg19) ; chr3:g.49026782T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026782T>C , CM000665.2:g.49026782T>C	GRCh38
NC_000003.11:g.49064215T>C , CM000665.1:g.49064215T>C	GRCh37
NC_000003.10:g.49039219T>C	NCBI36
NG_012091.1:g.7661A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2764A>G	ENSP00000515567.1:p.Lys922Glu
ENST00000703937.1:c.*1825A>G	ENSP00000515568.1:n.*1825A>G
ENST00000326739.9:c.724A>G MANE Select	ENSP00000321584.4:p.Lys242Glu
ENST00000429182.6:c.724A>G	ENSP00000393525.2:p.Lys242Glu
ENST00000442157.2:c.649A>G	ENSP00000403502.2:p.Lys217Glu
ENST00000462980.2:n.1239A>G
ENST00000472328.2:n.790A>G
ENST00000491610.2:n.684A>G
ENST00000676607.1:n.1020A>G
ENST00000676627.1:n.1454A>G
ENST00000676708.1:n.2004A>G
ENST00000676864.1:n.1873A>G
ENST00000677010.1:c.760A>G	ENSP00000503089.1:p.Lys254Glu
ENST00000677108.1:n.2630A>G
ENST00000677168.1:n.1196A>G
ENST00000677185.1:n.1287A>G
ENST00000677205.1:n.1508A>G
ENST00000677344.1:n.1998A>G
ENST00000677480.1:c.*401A>G	ENSP00000504378.1:n.*401A>G
ENST00000677519.1:n.1434A>G
ENST00000677593.1:n.1280A>G
ENST00000677740.1:n.2229A>G
ENST00000677991.1:n.1897A>G
ENST00000678001.1:n.1217A>G
ENST00000678085.1:n.1280A>G
ENST00000678177.1:n.2573A>G
ENST00000678603.1:n.1802A>G
ENST00000678724.1:c.649A>G	ENSP00000503874.1:p.Lys217Glu
ENST00000678920.1:n.882A>G
ENST00000679019.1:n.1494A>G
ENST00000679117.1:c.*539A>G	ENSP00000503240.1:n.*539A>G
ENST00000679339.1:n.1565A>G
ENST00000326739.8:c.724A>G	ENSP00000321584.4:p.Lys242Glu
ENST00000429182.5:c.518A>G
ENST00000442157.1:c.649A>G	ENSP00000403502.1:p.Lys217Glu
ENST00000462980.1:n.626A>G
ENST00000491610.1:n.684A>G
NM_000884.2:c.724A>G	NP_000875.2:p.Lys242Glu
XM_006713128.2:c.934A>G	XP_006713191.1:p.Lys312Glu
XM_006713128.3:c.934A>G	XP_006713191.1:p.Lys312Glu
XM_017006349.1:c.859A>G	XP_016861838.1:p.Lys287Glu
XM_017006350.1:c.859A>G	XP_016861839.1:p.Lys287Glu
NM_000884.3:c.724A>G MANE Select	NP_000875.2:p.Lys242Glu