Canonical Allele Identifier: CA352739557

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064015G>C (hg19) ; chr3:g.49026582G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026582G>C , CM000665.2:g.49026582G>C	GRCh38
NC_000003.11:g.49064015G>C , CM000665.1:g.49064015G>C	GRCh37
NC_000003.10:g.49039019G>C	NCBI36
NG_012091.1:g.7861C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2887C>G	ENSP00000515567.1:p.Gln963Glu
ENST00000703937.1:c.*1948C>G	ENSP00000515568.1:n.*1948C>G
ENST00000326739.9:c.847C>G MANE Select	ENSP00000321584.4:p.Gln283Glu
ENST00000429182.6:c.847C>G	ENSP00000393525.2:p.Gln283Glu
ENST00000442157.2:c.772C>G	ENSP00000403502.2:p.Gln258Glu
ENST00000462980.2:n.1362C>G
ENST00000472328.2:n.913C>G
ENST00000491610.2:n.807C>G
ENST00000676607.1:n.1143C>G
ENST00000676627.1:n.1577C>G
ENST00000676708.1:n.2127C>G
ENST00000676864.1:n.1996C>G
ENST00000677010.1:c.871C>G	ENSP00000503089.1:p.Gln291Glu
ENST00000677108.1:n.2830C>G
ENST00000677168.1:n.1319C>G
ENST00000677185.1:n.1410C>G
ENST00000677205.1:n.1631C>G
ENST00000677344.1:n.2121C>G
ENST00000677480.1:c.*524C>G	ENSP00000504378.1:n.*524C>G
ENST00000677519.1:n.1557C>G
ENST00000677593.1:n.1403C>G
ENST00000677740.1:n.2352C>G
ENST00000677991.1:n.2020C>G
ENST00000678001.1:n.1340C>G
ENST00000678085.1:n.1480C>G
ENST00000678177.1:n.2773C>G
ENST00000678603.1:n.1925C>G
ENST00000678724.1:c.772C>G	ENSP00000503874.1:p.Gln258Glu
ENST00000678920.1:n.1005C>G
ENST00000679019.1:n.1694C>G
ENST00000679117.1:c.*662C>G	ENSP00000503240.1:n.*662C>G
ENST00000679339.1:n.1688C>G
ENST00000326739.8:c.847C>G	ENSP00000321584.4:p.Gln283Glu
ENST00000429182.5:c.641C>G
ENST00000442157.1:c.772C>G	ENSP00000403502.1:p.Gln258Glu
ENST00000462980.1:n.749C>G
ENST00000491610.1:n.807C>G
NM_000884.2:c.847C>G	NP_000875.2:p.Gln283Glu
XM_006713128.2:c.1057C>G	XP_006713191.1:p.Gln353Glu
XM_006713128.3:c.1057C>G	XP_006713191.1:p.Gln353Glu
XM_017006349.1:c.982C>G	XP_016861838.1:p.Gln328Glu
XM_017006350.1:c.982C>G	XP_016861839.1:p.Gln328Glu
NM_000884.3:c.847C>G MANE Select	NP_000875.2:p.Gln283Glu