Canonical Allele Identifier: CA352739577

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064018A>C (hg19) ; chr3:g.49026585A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026585A>C , CM000665.2:g.49026585A>C	GRCh38
NC_000003.11:g.49064018A>C , CM000665.1:g.49064018A>C	GRCh37
NC_000003.10:g.49039022A>C	NCBI36
NG_012091.1:g.7858T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2884T>G	ENSP00000515567.1:p.Phe962Val
ENST00000703937.1:c.*1945T>G	ENSP00000515568.1:n.*1945T>G
ENST00000326739.9:c.844T>G MANE Select	ENSP00000321584.4:p.Phe282Val
ENST00000429182.6:c.844T>G	ENSP00000393525.2:p.Phe282Val
ENST00000442157.2:c.769T>G	ENSP00000403502.2:p.Phe257Val
ENST00000462980.2:n.1359T>G
ENST00000472328.2:n.910T>G
ENST00000491610.2:n.804T>G
ENST00000676607.1:n.1140T>G
ENST00000676627.1:n.1574T>G
ENST00000676708.1:n.2124T>G
ENST00000676864.1:n.1993T>G
ENST00000677010.1:c.868T>G	ENSP00000503089.1:p.Phe290Val
ENST00000677108.1:n.2827T>G
ENST00000677168.1:n.1316T>G
ENST00000677185.1:n.1407T>G
ENST00000677205.1:n.1628T>G
ENST00000677344.1:n.2118T>G
ENST00000677480.1:c.*521T>G	ENSP00000504378.1:n.*521T>G
ENST00000677519.1:n.1554T>G
ENST00000677593.1:n.1400T>G
ENST00000677740.1:n.2349T>G
ENST00000677991.1:n.2017T>G
ENST00000678001.1:n.1337T>G
ENST00000678085.1:n.1477T>G
ENST00000678177.1:n.2770T>G
ENST00000678603.1:n.1922T>G
ENST00000678724.1:c.769T>G	ENSP00000503874.1:p.Phe257Val
ENST00000678920.1:n.1002T>G
ENST00000679019.1:n.1691T>G
ENST00000679117.1:c.*659T>G	ENSP00000503240.1:n.*659T>G
ENST00000679339.1:n.1685T>G
ENST00000326739.8:c.844T>G	ENSP00000321584.4:p.Phe282Val
ENST00000429182.5:c.638T>G
ENST00000442157.1:c.769T>G	ENSP00000403502.1:p.Phe257Val
ENST00000462980.1:n.746T>G
ENST00000491610.1:n.804T>G
NM_000884.2:c.844T>G	NP_000875.2:p.Phe282Val
XM_006713128.2:c.1054T>G	XP_006713191.1:p.Phe352Val
XM_006713128.3:c.1054T>G	XP_006713191.1:p.Phe352Val
XM_017006349.1:c.979T>G	XP_016861838.1:p.Phe327Val
XM_017006350.1:c.979T>G	XP_016861839.1:p.Phe327Val
NM_000884.3:c.844T>G MANE Select	NP_000875.2:p.Phe282Val