Canonical Allele Identifier: CA352740442

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064221C>G (hg19) ; chr3:g.49026788C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026788C>G , CM000665.2:g.49026788C>G	GRCh38
NC_000003.11:g.49064221C>G , CM000665.1:g.49064221C>G	GRCh37
NC_000003.10:g.49039225C>G	NCBI36
NG_012091.1:g.7655G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2758G>C	ENSP00000515567.1:p.Ala920Pro
ENST00000703937.1:c.*1819G>C	ENSP00000515568.1:n.*1819G>C
ENST00000326739.9:c.718G>C MANE Select	ENSP00000321584.4:p.Ala240Pro
ENST00000429182.6:c.718G>C	ENSP00000393525.2:p.Ala240Pro
ENST00000442157.2:c.643G>C	ENSP00000403502.2:p.Ala215Pro
ENST00000462980.2:n.1233G>C
ENST00000472328.2:n.784G>C
ENST00000491610.2:n.678G>C
ENST00000676607.1:n.1014G>C
ENST00000676627.1:n.1448G>C
ENST00000676708.1:n.1998G>C
ENST00000676864.1:n.1867G>C
ENST00000677010.1:c.754G>C	ENSP00000503089.1:p.Ala252Pro
ENST00000677108.1:n.2624G>C
ENST00000677168.1:n.1190G>C
ENST00000677185.1:n.1281G>C
ENST00000677205.1:n.1502G>C
ENST00000677344.1:n.1992G>C
ENST00000677480.1:c.*395G>C	ENSP00000504378.1:n.*395G>C
ENST00000677519.1:n.1428G>C
ENST00000677593.1:n.1274G>C
ENST00000677740.1:n.2223G>C
ENST00000677991.1:n.1891G>C
ENST00000678001.1:n.1211G>C
ENST00000678085.1:n.1274G>C
ENST00000678177.1:n.2567G>C
ENST00000678603.1:n.1796G>C
ENST00000678724.1:c.643G>C	ENSP00000503874.1:p.Ala215Pro
ENST00000678920.1:n.876G>C
ENST00000679019.1:n.1488G>C
ENST00000679117.1:c.*533G>C	ENSP00000503240.1:n.*533G>C
ENST00000679339.1:n.1559G>C
ENST00000326739.8:c.718G>C	ENSP00000321584.4:p.Ala240Pro
ENST00000429182.5:c.512G>C
ENST00000442157.1:c.643G>C	ENSP00000403502.1:p.Ala215Pro
ENST00000462980.1:n.620G>C
ENST00000491610.1:n.678G>C
NM_000884.2:c.718G>C	NP_000875.2:p.Ala240Pro
XM_006713128.2:c.928G>C	XP_006713191.1:p.Ala310Pro
XM_006713128.3:c.928G>C	XP_006713191.1:p.Ala310Pro
XM_017006349.1:c.853G>C	XP_016861838.1:p.Ala285Pro
XM_017006350.1:c.853G>C	XP_016861839.1:p.Ala285Pro
NM_000884.3:c.718G>C MANE Select	NP_000875.2:p.Ala240Pro