Canonical Allele Identifier: CA352739900

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064144C>A (hg19) ; chr3:g.49026711C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026711C>A , CM000665.2:g.49026711C>A	GRCh38
NC_000003.11:g.49064144C>A , CM000665.1:g.49064144C>A	GRCh37
NC_000003.10:g.49039148C>A	NCBI36
NG_012091.1:g.7732G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2835G>T	ENSP00000515567.1:p.Gln945His
ENST00000703937.1:c.*1896G>T	ENSP00000515568.1:n.*1896G>T
ENST00000326739.9:c.795G>T MANE Select	ENSP00000321584.4:p.Gln265His
ENST00000429182.6:c.795G>T	ENSP00000393525.2:p.Gln265His
ENST00000442157.2:c.720G>T	ENSP00000403502.2:p.Gln240His
ENST00000462980.2:n.1310G>T
ENST00000472328.2:n.861G>T
ENST00000491610.2:n.755G>T
ENST00000676607.1:n.1091G>T
ENST00000676627.1:n.1525G>T
ENST00000676708.1:n.2075G>T
ENST00000676864.1:n.1944G>T
ENST00000677010.1:c.831G>T	ENSP00000503089.1:p.Gln277His
ENST00000677108.1:n.2701G>T
ENST00000677168.1:n.1267G>T
ENST00000677185.1:n.1358G>T
ENST00000677205.1:n.1579G>T
ENST00000677344.1:n.2069G>T
ENST00000677480.1:c.*472G>T	ENSP00000504378.1:n.*472G>T
ENST00000677519.1:n.1505G>T
ENST00000677593.1:n.1351G>T
ENST00000677740.1:n.2300G>T
ENST00000677991.1:n.1968G>T
ENST00000678001.1:n.1288G>T
ENST00000678085.1:n.1351G>T
ENST00000678177.1:n.2644G>T
ENST00000678603.1:n.1873G>T
ENST00000678724.1:c.720G>T	ENSP00000503874.1:p.Gln240His
ENST00000678920.1:n.953G>T
ENST00000679019.1:n.1565G>T
ENST00000679117.1:c.*610G>T	ENSP00000503240.1:n.*610G>T
ENST00000679339.1:n.1636G>T
ENST00000326739.8:c.795G>T	ENSP00000321584.4:p.Gln265His
ENST00000429182.5:c.589G>T
ENST00000442157.1:c.720G>T	ENSP00000403502.1:p.Gln240His
ENST00000462980.1:n.697G>T
ENST00000491610.1:n.755G>T
NM_000884.2:c.795G>T	NP_000875.2:p.Gln265His
XM_006713128.2:c.1005G>T	XP_006713191.1:p.Gln335His
XM_006713128.3:c.1005G>T	XP_006713191.1:p.Gln335His
XM_017006349.1:c.930G>T	XP_016861838.1:p.Gln310His
XM_017006350.1:c.930G>T	XP_016861839.1:p.Gln310His
NM_000884.3:c.795G>T MANE Select	NP_000875.2:p.Gln265His