Canonical Allele Identifier: CA2390608

Gene: IMPDH2

Linked Data

• dbSNP Id: rs370664735
• ExAC: 3:49064149 C / T
• gnomAD v2: 3-49064149-C-T
• gnomAD v4: 3-49026716-C-T
• MyVariant Identifiers: chr3:g.49064149C>T (hg19) ; chr3:g.49026716C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026716C>T , CM000665.2:g.49026716C>T	GRCh38
NC_000003.11:g.49064149C>T , CM000665.1:g.49064149C>T	GRCh37
NC_000003.10:g.49039153C>T	NCBI36
NG_012091.1:g.7727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2830G>A	ENSP00000515567.1:p.Ala944Thr
ENST00000703937.1:c.*1891G>A	ENSP00000515568.1:n.*1891G>A
ENST00000326739.9:c.790G>A MANE Select	ENSP00000321584.4:p.Ala264Thr
ENST00000429182.6:c.790G>A	ENSP00000393525.2:p.Ala264Thr
ENST00000442157.2:c.715G>A	ENSP00000403502.2:p.Ala239Thr
ENST00000462980.2:n.1305G>A
ENST00000472328.2:n.856G>A
ENST00000491610.2:n.750G>A
ENST00000676607.1:n.1086G>A
ENST00000676627.1:n.1520G>A
ENST00000676708.1:n.2070G>A
ENST00000676864.1:n.1939G>A
ENST00000677010.1:c.826G>A	ENSP00000503089.1:p.Ala276Thr
ENST00000677108.1:n.2696G>A
ENST00000677168.1:n.1262G>A
ENST00000677185.1:n.1353G>A
ENST00000677205.1:n.1574G>A
ENST00000677344.1:n.2064G>A
ENST00000677480.1:c.*467G>A	ENSP00000504378.1:n.*467G>A
ENST00000677519.1:n.1500G>A
ENST00000677593.1:n.1346G>A
ENST00000677740.1:n.2295G>A
ENST00000677991.1:n.1963G>A
ENST00000678001.1:n.1283G>A
ENST00000678085.1:n.1346G>A
ENST00000678177.1:n.2639G>A
ENST00000678603.1:n.1868G>A
ENST00000678724.1:c.715G>A	ENSP00000503874.1:p.Ala239Thr
ENST00000678920.1:n.948G>A
ENST00000679019.1:n.1560G>A
ENST00000679117.1:c.*605G>A	ENSP00000503240.1:n.*605G>A
ENST00000679339.1:n.1631G>A
ENST00000326739.8:c.790G>A	ENSP00000321584.4:p.Ala264Thr
ENST00000429182.5:c.584G>A
ENST00000442157.1:c.715G>A	ENSP00000403502.1:p.Ala239Thr
ENST00000462980.1:n.692G>A
ENST00000491610.1:n.750G>A
NM_000884.2:c.790G>A	NP_000875.2:p.Ala264Thr
XM_006713128.2:c.1000G>A	XP_006713191.1:p.Ala334Thr
XM_006713128.3:c.1000G>A	XP_006713191.1:p.Ala334Thr
XM_017006349.1:c.925G>A	XP_016861838.1:p.Ala309Thr
XM_017006350.1:c.925G>A	XP_016861839.1:p.Ala309Thr
NM_000884.3:c.790G>A MANE Select	NP_000875.2:p.Ala264Thr