Canonical Allele Identifier: CA352740722

Gene: IMPDH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2725A>T	ENSP00000515567.1:p.Lys909Ter
ENST00000703937.1:c.*1786A>T	ENSP00000515568.1:n.*1786A>T
ENST00000326739.9:c.685A>T MANE Select	ENSP00000321584.4:p.Lys229Ter
ENST00000429182.6:c.685A>T	ENSP00000393525.2:p.Lys229Ter
ENST00000442157.2:c.610A>T	ENSP00000403502.2:p.Lys204Ter
ENST00000462980.2:n.1200A>T
ENST00000472328.2:n.751A>T
ENST00000491610.2:n.645A>T
ENST00000676607.1:n.981A>T
ENST00000676627.1:n.1415A>T
ENST00000676708.1:n.1965A>T
ENST00000676864.1:n.1834A>T
ENST00000677010.1:c.721A>T	ENSP00000503089.1:p.Lys241Ter
ENST00000677108.1:n.2591A>T
ENST00000677168.1:n.1157A>T
ENST00000677185.1:n.1248A>T
ENST00000677205.1:n.1469A>T
ENST00000677344.1:n.1959A>T
ENST00000677480.1:c.*362A>T	ENSP00000504378.1:n.*362A>T
ENST00000677519.1:n.1395A>T
ENST00000677593.1:n.1241A>T
ENST00000677740.1:n.2190A>T
ENST00000677991.1:n.1858A>T
ENST00000678001.1:n.1178A>T
ENST00000678085.1:n.1241A>T
ENST00000678177.1:n.2534A>T
ENST00000678603.1:n.1763A>T
ENST00000678724.1:c.610A>T	ENSP00000503874.1:p.Lys204Ter
ENST00000678920.1:n.843A>T
ENST00000679019.1:n.1455A>T
ENST00000679117.1:c.*500A>T	ENSP00000503240.1:n.*500A>T
ENST00000679339.1:n.1526A>T
ENST00000326739.8:c.685A>T	ENSP00000321584.4:p.Lys229Ter
ENST00000429182.5:c.479A>T
ENST00000442157.1:c.610A>T	ENSP00000403502.1:p.Lys204Ter
ENST00000462980.1:n.587A>T
ENST00000491610.1:n.645A>T
NM_000884.2:c.685A>T	NP_000875.2:p.Lys229Ter
XM_006713128.2:c.895A>T	XP_006713191.1:p.Lys299Ter
XM_006713128.3:c.895A>T	XP_006713191.1:p.Lys299Ter
XM_017006349.1:c.820A>T	XP_016861838.1:p.Lys274Ter
XM_017006350.1:c.820A>T	XP_016861839.1:p.Lys274Ter
NM_000884.3:c.685A>T MANE Select	NP_000875.2:p.Lys229Ter