Canonical Allele Identifier: CA2390604

Gene: IMPDH2

Linked Data

• dbSNP Id: rs757430074
• ExAC: 3:49064127 A / C
• gnomAD v2: 3-49064127-A-C
• gnomAD v4: 3-49026694-A-C
• MyVariant Identifiers: chr3:g.49064127A>C (hg19) ; chr3:g.49026694A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026694A>C , CM000665.2:g.49026694A>C	GRCh38
NC_000003.11:g.49064127A>C , CM000665.1:g.49064127A>C	GRCh37
NC_000003.10:g.49039131A>C	NCBI36
NG_012091.1:g.7749T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2852T>G	ENSP00000515567.1:p.Val951Gly
ENST00000703937.1:c.*1913T>G	ENSP00000515568.1:n.*1913T>G
ENST00000326739.9:c.812T>G MANE Select	ENSP00000321584.4:p.Val271Gly
ENST00000429182.6:c.812T>G	ENSP00000393525.2:p.Val271Gly
ENST00000442157.2:c.737T>G	ENSP00000403502.2:p.Val246Gly
ENST00000462980.2:n.1327T>G
ENST00000472328.2:n.878T>G
ENST00000491610.2:n.772T>G
ENST00000676607.1:n.1108T>G
ENST00000676627.1:n.1542T>G
ENST00000676708.1:n.2092T>G
ENST00000676864.1:n.1961T>G
ENST00000677010.1:c.848T>G	ENSP00000503089.1:p.Val283Gly
ENST00000677108.1:n.2718T>G
ENST00000677168.1:n.1284T>G
ENST00000677185.1:n.1375T>G
ENST00000677205.1:n.1596T>G
ENST00000677344.1:n.2086T>G
ENST00000677480.1:c.*489T>G	ENSP00000504378.1:n.*489T>G
ENST00000677519.1:n.1522T>G
ENST00000677593.1:n.1368T>G
ENST00000677740.1:n.2317T>G
ENST00000677991.1:n.1985T>G
ENST00000678001.1:n.1305T>G
ENST00000678085.1:n.1368T>G
ENST00000678177.1:n.2661T>G
ENST00000678603.1:n.1890T>G
ENST00000678724.1:c.737T>G	ENSP00000503874.1:p.Val246Gly
ENST00000678920.1:n.970T>G
ENST00000679019.1:n.1582T>G
ENST00000679117.1:c.*627T>G	ENSP00000503240.1:n.*627T>G
ENST00000679339.1:n.1653T>G
ENST00000326739.8:c.812T>G	ENSP00000321584.4:p.Val271Gly
ENST00000429182.5:c.606T>G
ENST00000442157.1:c.737T>G	ENSP00000403502.1:p.Val246Gly
ENST00000462980.1:n.714T>G
ENST00000491610.1:n.772T>G
NM_000884.2:c.812T>G	NP_000875.2:p.Val271Gly
XM_006713128.2:c.1022T>G	XP_006713191.1:p.Val341Gly
XM_006713128.3:c.1022T>G	XP_006713191.1:p.Val341Gly
XM_017006349.1:c.947T>G	XP_016861838.1:p.Val316Gly
XM_017006350.1:c.947T>G	XP_016861839.1:p.Val316Gly
NM_000884.3:c.812T>G MANE Select	NP_000875.2:p.Val271Gly