Canonical Allele Identifier: CA352740536

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064235A>C (hg19) ; chr3:g.49026802A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026802A>C , CM000665.2:g.49026802A>C	GRCh38
NC_000003.11:g.49064235A>C , CM000665.1:g.49064235A>C	GRCh37
NC_000003.10:g.49039239A>C	NCBI36
NG_012091.1:g.7641T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2744T>G	ENSP00000515567.1:p.Leu915Arg
ENST00000703937.1:c.*1805T>G	ENSP00000515568.1:n.*1805T>G
ENST00000326739.9:c.704T>G MANE Select	ENSP00000321584.4:p.Leu235Arg
ENST00000429182.6:c.704T>G	ENSP00000393525.2:p.Leu235Arg
ENST00000442157.2:c.629T>G	ENSP00000403502.2:p.Leu210Arg
ENST00000462980.2:n.1219T>G
ENST00000472328.2:n.770T>G
ENST00000491610.2:n.664T>G
ENST00000676607.1:n.1000T>G
ENST00000676627.1:n.1434T>G
ENST00000676708.1:n.1984T>G
ENST00000676864.1:n.1853T>G
ENST00000677010.1:c.740T>G	ENSP00000503089.1:p.Leu247Arg
ENST00000677108.1:n.2610T>G
ENST00000677168.1:n.1176T>G
ENST00000677185.1:n.1267T>G
ENST00000677205.1:n.1488T>G
ENST00000677344.1:n.1978T>G
ENST00000677480.1:c.*381T>G	ENSP00000504378.1:n.*381T>G
ENST00000677519.1:n.1414T>G
ENST00000677593.1:n.1260T>G
ENST00000677740.1:n.2209T>G
ENST00000677991.1:n.1877T>G
ENST00000678001.1:n.1197T>G
ENST00000678085.1:n.1260T>G
ENST00000678177.1:n.2553T>G
ENST00000678603.1:n.1782T>G
ENST00000678724.1:c.629T>G	ENSP00000503874.1:p.Leu210Arg
ENST00000678920.1:n.862T>G
ENST00000679019.1:n.1474T>G
ENST00000679117.1:c.*519T>G	ENSP00000503240.1:n.*519T>G
ENST00000679339.1:n.1545T>G
ENST00000326739.8:c.704T>G	ENSP00000321584.4:p.Leu235Arg
ENST00000429182.5:c.498T>G
ENST00000442157.1:c.629T>G	ENSP00000403502.1:p.Leu210Arg
ENST00000462980.1:n.606T>G
ENST00000491610.1:n.664T>G
NM_000884.2:c.704T>G	NP_000875.2:p.Leu235Arg
XM_006713128.2:c.914T>G	XP_006713191.1:p.Leu305Arg
XM_006713128.3:c.914T>G	XP_006713191.1:p.Leu305Arg
XM_017006349.1:c.839T>G	XP_016861838.1:p.Leu280Arg
XM_017006350.1:c.839T>G	XP_016861839.1:p.Leu280Arg
NM_000884.3:c.704T>G MANE Select	NP_000875.2:p.Leu235Arg