Canonical Allele Identifier: CA352740025

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064164T>A (hg19) ; chr3:g.49026731T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026731T>A , CM000665.2:g.49026731T>A	GRCh38
NC_000003.11:g.49064164T>A , CM000665.1:g.49064164T>A	GRCh37
NC_000003.10:g.49039168T>A	NCBI36
NG_012091.1:g.7712A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2815A>T	ENSP00000515567.1:p.Arg939Trp
ENST00000703937.1:c.*1876A>T	ENSP00000515568.1:n.*1876A>T
ENST00000326739.9:c.775A>T MANE Select	ENSP00000321584.4:p.Arg259Trp
ENST00000429182.6:c.775A>T	ENSP00000393525.2:p.Arg259Trp
ENST00000442157.2:c.700A>T	ENSP00000403502.2:p.Arg234Trp
ENST00000462980.2:n.1290A>T
ENST00000472328.2:n.841A>T
ENST00000491610.2:n.735A>T
ENST00000676607.1:n.1071A>T
ENST00000676627.1:n.1505A>T
ENST00000676708.1:n.2055A>T
ENST00000676864.1:n.1924A>T
ENST00000677010.1:c.811A>T	ENSP00000503089.1:p.Arg271Trp
ENST00000677108.1:n.2681A>T
ENST00000677168.1:n.1247A>T
ENST00000677185.1:n.1338A>T
ENST00000677205.1:n.1559A>T
ENST00000677344.1:n.2049A>T
ENST00000677480.1:c.*452A>T	ENSP00000504378.1:n.*452A>T
ENST00000677519.1:n.1485A>T
ENST00000677593.1:n.1331A>T
ENST00000677740.1:n.2280A>T
ENST00000677991.1:n.1948A>T
ENST00000678001.1:n.1268A>T
ENST00000678085.1:n.1331A>T
ENST00000678177.1:n.2624A>T
ENST00000678603.1:n.1853A>T
ENST00000678724.1:c.700A>T	ENSP00000503874.1:p.Arg234Trp
ENST00000678920.1:n.933A>T
ENST00000679019.1:n.1545A>T
ENST00000679117.1:c.*590A>T	ENSP00000503240.1:n.*590A>T
ENST00000679339.1:n.1616A>T
ENST00000326739.8:c.775A>T	ENSP00000321584.4:p.Arg259Trp
ENST00000429182.5:c.569A>T
ENST00000442157.1:c.700A>T	ENSP00000403502.1:p.Arg234Trp
ENST00000462980.1:n.677A>T
ENST00000491610.1:n.735A>T
NM_000884.2:c.775A>T	NP_000875.2:p.Arg259Trp
XM_006713128.2:c.985A>T	XP_006713191.1:p.Arg329Trp
XM_006713128.3:c.985A>T	XP_006713191.1:p.Arg329Trp
XM_017006349.1:c.910A>T	XP_016861838.1:p.Arg304Trp
XM_017006350.1:c.910A>T	XP_016861839.1:p.Arg304Trp
NM_000884.3:c.775A>T MANE Select	NP_000875.2:p.Arg259Trp