Canonical Allele Identifier: CA352740662

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064251T>G (hg19) ; chr3:g.49026818T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026818T>G , CM000665.2:g.49026818T>G	GRCh38
NC_000003.11:g.49064251T>G , CM000665.1:g.49064251T>G	GRCh37
NC_000003.10:g.49039255T>G	NCBI36
NG_012091.1:g.7625A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2728A>C	ENSP00000515567.1:p.Asn910His
ENST00000703937.1:c.*1789A>C	ENSP00000515568.1:n.*1789A>C
ENST00000326739.9:c.688A>C MANE Select	ENSP00000321584.4:p.Asn230His
ENST00000429182.6:c.688A>C	ENSP00000393525.2:p.Asn230His
ENST00000442157.2:c.613A>C	ENSP00000403502.2:p.Asn205His
ENST00000462980.2:n.1203A>C
ENST00000472328.2:n.754A>C
ENST00000491610.2:n.648A>C
ENST00000676607.1:n.984A>C
ENST00000676627.1:n.1418A>C
ENST00000676708.1:n.1968A>C
ENST00000676864.1:n.1837A>C
ENST00000677010.1:c.724A>C	ENSP00000503089.1:p.Asn242His
ENST00000677108.1:n.2594A>C
ENST00000677168.1:n.1160A>C
ENST00000677185.1:n.1251A>C
ENST00000677205.1:n.1472A>C
ENST00000677344.1:n.1962A>C
ENST00000677480.1:c.*365A>C	ENSP00000504378.1:n.*365A>C
ENST00000677519.1:n.1398A>C
ENST00000677593.1:n.1244A>C
ENST00000677740.1:n.2193A>C
ENST00000677991.1:n.1861A>C
ENST00000678001.1:n.1181A>C
ENST00000678085.1:n.1244A>C
ENST00000678177.1:n.2537A>C
ENST00000678603.1:n.1766A>C
ENST00000678724.1:c.613A>C	ENSP00000503874.1:p.Asn205His
ENST00000678920.1:n.846A>C
ENST00000679019.1:n.1458A>C
ENST00000679117.1:c.*503A>C	ENSP00000503240.1:n.*503A>C
ENST00000679339.1:n.1529A>C
ENST00000326739.8:c.688A>C	ENSP00000321584.4:p.Asn230His
ENST00000429182.5:c.482A>C
ENST00000442157.1:c.613A>C	ENSP00000403502.1:p.Asn205His
ENST00000462980.1:n.590A>C
ENST00000491610.1:n.648A>C
NM_000884.2:c.688A>C	NP_000875.2:p.Asn230His
XM_006713128.2:c.898A>C	XP_006713191.1:p.Asn300His
XM_006713128.3:c.898A>C	XP_006713191.1:p.Asn300His
XM_017006349.1:c.823A>C	XP_016861838.1:p.Asn275His
XM_017006350.1:c.823A>C	XP_016861839.1:p.Asn275His
NM_000884.3:c.688A>C MANE Select	NP_000875.2:p.Asn230His