Canonical Allele Identifier: CA352740719

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064254T>C (hg19) ; chr3:g.49026821T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026821T>C , CM000665.2:g.49026821T>C	GRCh38
NC_000003.11:g.49064254T>C , CM000665.1:g.49064254T>C	GRCh37
NC_000003.10:g.49039258T>C	NCBI36
NG_012091.1:g.7622A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2725A>G	ENSP00000515567.1:p.Lys909Glu
ENST00000703937.1:c.*1786A>G	ENSP00000515568.1:n.*1786A>G
ENST00000326739.9:c.685A>G MANE Select	ENSP00000321584.4:p.Lys229Glu
ENST00000429182.6:c.685A>G	ENSP00000393525.2:p.Lys229Glu
ENST00000442157.2:c.610A>G	ENSP00000403502.2:p.Lys204Glu
ENST00000462980.2:n.1200A>G
ENST00000472328.2:n.751A>G
ENST00000491610.2:n.645A>G
ENST00000676607.1:n.981A>G
ENST00000676627.1:n.1415A>G
ENST00000676708.1:n.1965A>G
ENST00000676864.1:n.1834A>G
ENST00000677010.1:c.721A>G	ENSP00000503089.1:p.Lys241Glu
ENST00000677108.1:n.2591A>G
ENST00000677168.1:n.1157A>G
ENST00000677185.1:n.1248A>G
ENST00000677205.1:n.1469A>G
ENST00000677344.1:n.1959A>G
ENST00000677480.1:c.*362A>G	ENSP00000504378.1:n.*362A>G
ENST00000677519.1:n.1395A>G
ENST00000677593.1:n.1241A>G
ENST00000677740.1:n.2190A>G
ENST00000677991.1:n.1858A>G
ENST00000678001.1:n.1178A>G
ENST00000678085.1:n.1241A>G
ENST00000678177.1:n.2534A>G
ENST00000678603.1:n.1763A>G
ENST00000678724.1:c.610A>G	ENSP00000503874.1:p.Lys204Glu
ENST00000678920.1:n.843A>G
ENST00000679019.1:n.1455A>G
ENST00000679117.1:c.*500A>G	ENSP00000503240.1:n.*500A>G
ENST00000679339.1:n.1526A>G
ENST00000326739.8:c.685A>G	ENSP00000321584.4:p.Lys229Glu
ENST00000429182.5:c.479A>G
ENST00000442157.1:c.610A>G	ENSP00000403502.1:p.Lys204Glu
ENST00000462980.1:n.587A>G
ENST00000491610.1:n.645A>G
NM_000884.2:c.685A>G	NP_000875.2:p.Lys229Glu
XM_006713128.2:c.895A>G	XP_006713191.1:p.Lys299Glu
XM_006713128.3:c.895A>G	XP_006713191.1:p.Lys299Glu
XM_017006349.1:c.820A>G	XP_016861838.1:p.Lys274Glu
XM_017006350.1:c.820A>G	XP_016861839.1:p.Lys274Glu
NM_000884.3:c.685A>G MANE Select	NP_000875.2:p.Lys229Glu