Canonical Allele Identifier: CA352740033

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064166T>A (hg19) ; chr3:g.49026733T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026733T>A , CM000665.2:g.49026733T>A	GRCh38
NC_000003.11:g.49064166T>A , CM000665.1:g.49064166T>A	GRCh37
NC_000003.10:g.49039170T>A	NCBI36
NG_012091.1:g.7710A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2813A>T	ENSP00000515567.1:p.Tyr938Phe
ENST00000703937.1:c.*1874A>T	ENSP00000515568.1:n.*1874A>T
ENST00000326739.9:c.773A>T MANE Select	ENSP00000321584.4:p.Tyr258Phe
ENST00000429182.6:c.773A>T	ENSP00000393525.2:p.Tyr258Phe
ENST00000442157.2:c.698A>T	ENSP00000403502.2:p.Tyr233Phe
ENST00000462980.2:n.1288A>T
ENST00000472328.2:n.839A>T
ENST00000491610.2:n.733A>T
ENST00000676607.1:n.1069A>T
ENST00000676627.1:n.1503A>T
ENST00000676708.1:n.2053A>T
ENST00000676864.1:n.1922A>T
ENST00000677010.1:c.809A>T	ENSP00000503089.1:p.Tyr270Phe
ENST00000677108.1:n.2679A>T
ENST00000677168.1:n.1245A>T
ENST00000677185.1:n.1336A>T
ENST00000677205.1:n.1557A>T
ENST00000677344.1:n.2047A>T
ENST00000677480.1:c.*450A>T	ENSP00000504378.1:n.*450A>T
ENST00000677519.1:n.1483A>T
ENST00000677593.1:n.1329A>T
ENST00000677740.1:n.2278A>T
ENST00000677991.1:n.1946A>T
ENST00000678001.1:n.1266A>T
ENST00000678085.1:n.1329A>T
ENST00000678177.1:n.2622A>T
ENST00000678603.1:n.1851A>T
ENST00000678724.1:c.698A>T	ENSP00000503874.1:p.Tyr233Phe
ENST00000678920.1:n.931A>T
ENST00000679019.1:n.1543A>T
ENST00000679117.1:c.*588A>T	ENSP00000503240.1:n.*588A>T
ENST00000679339.1:n.1614A>T
ENST00000326739.8:c.773A>T	ENSP00000321584.4:p.Tyr258Phe
ENST00000429182.5:c.567A>T
ENST00000442157.1:c.698A>T	ENSP00000403502.1:p.Tyr233Phe
ENST00000462980.1:n.675A>T
ENST00000491610.1:n.733A>T
NM_000884.2:c.773A>T	NP_000875.2:p.Tyr258Phe
XM_006713128.2:c.983A>T	XP_006713191.1:p.Tyr328Phe
XM_006713128.3:c.983A>T	XP_006713191.1:p.Tyr328Phe
XM_017006349.1:c.908A>T	XP_016861838.1:p.Tyr303Phe
XM_017006350.1:c.908A>T	XP_016861839.1:p.Tyr303Phe
NM_000884.3:c.773A>T MANE Select	NP_000875.2:p.Tyr258Phe