Canonical Allele Identifier: CA352740864

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064278T>A (hg19) ; chr3:g.49026845T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026845T>A , CM000665.2:g.49026845T>A	GRCh38
NC_000003.11:g.49064278T>A , CM000665.1:g.49064278T>A	GRCh37
NC_000003.10:g.49039282T>A	NCBI36
NG_012091.1:g.7598A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2701A>T	ENSP00000515567.1:p.Ile901Phe
ENST00000703937.1:c.*1762A>T	ENSP00000515568.1:n.*1762A>T
ENST00000326739.9:c.661A>T MANE Select	ENSP00000321584.4:p.Ile221Phe
ENST00000429182.6:c.661A>T	ENSP00000393525.2:p.Ile221Phe
ENST00000442157.2:c.586A>T	ENSP00000403502.2:p.Ile196Phe
ENST00000462980.2:n.1176A>T
ENST00000472328.2:n.727A>T
ENST00000491610.2:n.621A>T
ENST00000676607.1:n.957A>T
ENST00000676627.1:n.1391A>T
ENST00000676708.1:n.1941A>T
ENST00000676864.1:n.1810A>T
ENST00000677010.1:c.697A>T	ENSP00000503089.1:p.Ile233Phe
ENST00000677108.1:n.2567A>T
ENST00000677168.1:n.1133A>T
ENST00000677185.1:n.1224A>T
ENST00000677205.1:n.1445A>T
ENST00000677344.1:n.1935A>T
ENST00000677480.1:c.*338A>T	ENSP00000504378.1:n.*338A>T
ENST00000677519.1:n.1371A>T
ENST00000677593.1:n.1217A>T
ENST00000677740.1:n.2166A>T
ENST00000677991.1:n.1834A>T
ENST00000678001.1:n.1154A>T
ENST00000678085.1:n.1217A>T
ENST00000678177.1:n.2510A>T
ENST00000678603.1:n.1739A>T
ENST00000678724.1:c.586A>T	ENSP00000503874.1:p.Ile196Phe
ENST00000678920.1:n.819A>T
ENST00000679019.1:n.1431A>T
ENST00000679117.1:c.*476A>T	ENSP00000503240.1:n.*476A>T
ENST00000679339.1:n.1502A>T
ENST00000326739.8:c.661A>T	ENSP00000321584.4:p.Ile221Phe
ENST00000429182.5:c.455A>T
ENST00000442157.1:c.586A>T	ENSP00000403502.1:p.Ile196Phe
ENST00000462980.1:n.563A>T
ENST00000491610.1:n.621A>T
NM_000884.2:c.661A>T	NP_000875.2:p.Ile221Phe
XM_006713128.2:c.871A>T	XP_006713191.1:p.Ile291Phe
XM_006713128.3:c.871A>T	XP_006713191.1:p.Ile291Phe
XM_017006349.1:c.796A>T	XP_016861838.1:p.Ile266Phe
XM_017006350.1:c.796A>T	XP_016861839.1:p.Ile266Phe
NM_000884.3:c.661A>T MANE Select	NP_000875.2:p.Ile221Phe