Canonical Allele Identifier: CA2390612

Gene: IMPDH2

Linked Data

• dbSNP Id: rs761591592
• ExAC: 3:49064172 T / C
• gnomAD v2: 3-49064172-T-C
• gnomAD v4: 3-49026739-T-C
• MyVariant Identifiers: chr3:g.49064172T>C (hg19) ; chr3:g.49026739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026739T>C , CM000665.2:g.49026739T>C	GRCh38
NC_000003.11:g.49064172T>C , CM000665.1:g.49064172T>C	GRCh37
NC_000003.10:g.49039176T>C	NCBI36
NG_012091.1:g.7704A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2807A>G	ENSP00000515567.1:p.Asp936Gly
ENST00000703937.1:c.*1868A>G	ENSP00000515568.1:n.*1868A>G
ENST00000326739.9:c.767A>G MANE Select	ENSP00000321584.4:p.Asp256Gly
ENST00000429182.6:c.767A>G	ENSP00000393525.2:p.Asp256Gly
ENST00000442157.2:c.692A>G	ENSP00000403502.2:p.Asp231Gly
ENST00000462980.2:n.1282A>G
ENST00000472328.2:n.833A>G
ENST00000491610.2:n.727A>G
ENST00000676607.1:n.1063A>G
ENST00000676627.1:n.1497A>G
ENST00000676708.1:n.2047A>G
ENST00000676864.1:n.1916A>G
ENST00000677010.1:c.803A>G	ENSP00000503089.1:p.Asp268Gly
ENST00000677108.1:n.2673A>G
ENST00000677168.1:n.1239A>G
ENST00000677185.1:n.1330A>G
ENST00000677205.1:n.1551A>G
ENST00000677344.1:n.2041A>G
ENST00000677480.1:c.*444A>G	ENSP00000504378.1:n.*444A>G
ENST00000677519.1:n.1477A>G
ENST00000677593.1:n.1323A>G
ENST00000677740.1:n.2272A>G
ENST00000677991.1:n.1940A>G
ENST00000678001.1:n.1260A>G
ENST00000678085.1:n.1323A>G
ENST00000678177.1:n.2616A>G
ENST00000678603.1:n.1845A>G
ENST00000678724.1:c.692A>G	ENSP00000503874.1:p.Asp231Gly
ENST00000678920.1:n.925A>G
ENST00000679019.1:n.1537A>G
ENST00000679117.1:c.*582A>G	ENSP00000503240.1:n.*582A>G
ENST00000679339.1:n.1608A>G
ENST00000326739.8:c.767A>G	ENSP00000321584.4:p.Asp256Gly
ENST00000429182.5:c.561A>G
ENST00000442157.1:c.692A>G	ENSP00000403502.1:p.Asp231Gly
ENST00000462980.1:n.669A>G
ENST00000491610.1:n.727A>G
NM_000884.2:c.767A>G	NP_000875.2:p.Asp256Gly
XM_006713128.2:c.977A>G	XP_006713191.1:p.Asp326Gly
XM_006713128.3:c.977A>G	XP_006713191.1:p.Asp326Gly
XM_017006349.1:c.902A>G	XP_016861838.1:p.Asp301Gly
XM_017006350.1:c.902A>G	XP_016861839.1:p.Asp301Gly
NM_000884.3:c.767A>G MANE Select	NP_000875.2:p.Asp256Gly