Canonical Allele Identifier: CA352740219

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064193G>T (hg19) ; chr3:g.49026760G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026760G>T , CM000665.2:g.49026760G>T	GRCh38
NC_000003.11:g.49064193G>T , CM000665.1:g.49064193G>T	GRCh37
NC_000003.10:g.49039197G>T	NCBI36
NG_012091.1:g.7683C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2786C>A	ENSP00000515567.1:p.Ala929Asp
ENST00000703937.1:c.*1847C>A	ENSP00000515568.1:n.*1847C>A
ENST00000326739.9:c.746C>A MANE Select	ENSP00000321584.4:p.Ala249Asp
ENST00000429182.6:c.746C>A	ENSP00000393525.2:p.Ala249Asp
ENST00000442157.2:c.671C>A	ENSP00000403502.2:p.Ala224Asp
ENST00000462980.2:n.1261C>A
ENST00000472328.2:n.812C>A
ENST00000491610.2:n.706C>A
ENST00000676607.1:n.1042C>A
ENST00000676627.1:n.1476C>A
ENST00000676708.1:n.2026C>A
ENST00000676864.1:n.1895C>A
ENST00000677010.1:c.782C>A	ENSP00000503089.1:p.Ala261Asp
ENST00000677108.1:n.2652C>A
ENST00000677168.1:n.1218C>A
ENST00000677185.1:n.1309C>A
ENST00000677205.1:n.1530C>A
ENST00000677344.1:n.2020C>A
ENST00000677480.1:c.*423C>A	ENSP00000504378.1:n.*423C>A
ENST00000677519.1:n.1456C>A
ENST00000677593.1:n.1302C>A
ENST00000677740.1:n.2251C>A
ENST00000677991.1:n.1919C>A
ENST00000678001.1:n.1239C>A
ENST00000678085.1:n.1302C>A
ENST00000678177.1:n.2595C>A
ENST00000678603.1:n.1824C>A
ENST00000678724.1:c.671C>A	ENSP00000503874.1:p.Ala224Asp
ENST00000678920.1:n.904C>A
ENST00000679019.1:n.1516C>A
ENST00000679117.1:c.*561C>A	ENSP00000503240.1:n.*561C>A
ENST00000679339.1:n.1587C>A
ENST00000326739.8:c.746C>A	ENSP00000321584.4:p.Ala249Asp
ENST00000429182.5:c.540C>A
ENST00000442157.1:c.671C>A	ENSP00000403502.1:p.Ala224Asp
ENST00000462980.1:n.648C>A
ENST00000491610.1:n.706C>A
NM_000884.2:c.746C>A	NP_000875.2:p.Ala249Asp
XM_006713128.2:c.956C>A	XP_006713191.1:p.Ala319Asp
XM_006713128.3:c.956C>A	XP_006713191.1:p.Ala319Asp
XM_017006349.1:c.881C>A	XP_016861838.1:p.Ala294Asp
XM_017006350.1:c.881C>A	XP_016861839.1:p.Ala294Asp
NM_000884.3:c.746C>A MANE Select	NP_000875.2:p.Ala249Asp