Canonical Allele Identifier: CA2390582

Gene: IMPDH2

Linked Data

• dbSNP Id: rs537279898
• ExAC: 3:49064016 G / A
• gnomAD v2: 3-49064016-G-A
• gnomAD v3: 3-49026583-G-A
• gnomAD v4: 3-49026583-G-A
• MyVariant Identifiers: chr3:g.49064016G>A (hg19) ; chr3:g.49026583G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026583G>A , CM000665.2:g.49026583G>A	GRCh38
NC_000003.11:g.49064016G>A , CM000665.1:g.49064016G>A	GRCh37
NC_000003.10:g.49039020G>A	NCBI36
NG_012091.1:g.7860C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2886C>T	ENSP00000515567.1:p.Phe962=
ENST00000703937.1:c.*1947C>T	ENSP00000515568.1:n.*1947C>T
ENST00000326739.9:c.846C>T MANE Select	ENSP00000321584.4:p.Phe282=
ENST00000429182.6:c.846C>T	ENSP00000393525.2:p.Phe282=
ENST00000442157.2:c.771C>T	ENSP00000403502.2:p.Phe257=
ENST00000462980.2:n.1361C>T
ENST00000472328.2:n.912C>T
ENST00000491610.2:n.806C>T
ENST00000676607.1:n.1142C>T
ENST00000676627.1:n.1576C>T
ENST00000676708.1:n.2126C>T
ENST00000676864.1:n.1995C>T
ENST00000677010.1:c.870C>T	ENSP00000503089.1:p.Phe290=
ENST00000677108.1:n.2829C>T
ENST00000677168.1:n.1318C>T
ENST00000677185.1:n.1409C>T
ENST00000677205.1:n.1630C>T
ENST00000677344.1:n.2120C>T
ENST00000677480.1:c.*523C>T	ENSP00000504378.1:n.*523C>T
ENST00000677519.1:n.1556C>T
ENST00000677593.1:n.1402C>T
ENST00000677740.1:n.2351C>T
ENST00000677991.1:n.2019C>T
ENST00000678001.1:n.1339C>T
ENST00000678085.1:n.1479C>T
ENST00000678177.1:n.2772C>T
ENST00000678603.1:n.1924C>T
ENST00000678724.1:c.771C>T	ENSP00000503874.1:p.Phe257=
ENST00000678920.1:n.1004C>T
ENST00000679019.1:n.1693C>T
ENST00000679117.1:c.*661C>T	ENSP00000503240.1:n.*661C>T
ENST00000679339.1:n.1687C>T
ENST00000326739.8:c.846C>T	ENSP00000321584.4:p.Phe282=
ENST00000429182.5:c.640C>T
ENST00000442157.1:c.771C>T	ENSP00000403502.1:p.Phe257=
ENST00000462980.1:n.748C>T
ENST00000491610.1:n.806C>T
NM_000884.2:c.846C>T	NP_000875.2:p.Phe282=
XM_006713128.2:c.1056C>T	XP_006713191.1:p.Phe352=
XM_006713128.3:c.1056C>T	XP_006713191.1:p.Phe352=
XM_017006349.1:c.981C>T	XP_016861838.1:p.Phe327=
XM_017006350.1:c.981C>T	XP_016861839.1:p.Phe327=
NM_000884.3:c.846C>T MANE Select	NP_000875.2:p.Phe282=