Canonical Allele Identifier: CA352740441

Gene: IMPDH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2758G>T	ENSP00000515567.1:p.Ala920Ser
ENST00000703937.1:c.*1819G>T	ENSP00000515568.1:n.*1819G>T
ENST00000326739.9:c.718G>T MANE Select	ENSP00000321584.4:p.Ala240Ser
ENST00000429182.6:c.718G>T	ENSP00000393525.2:p.Ala240Ser
ENST00000442157.2:c.643G>T	ENSP00000403502.2:p.Ala215Ser
ENST00000462980.2:n.1233G>T
ENST00000472328.2:n.784G>T
ENST00000491610.2:n.678G>T
ENST00000676607.1:n.1014G>T
ENST00000676627.1:n.1448G>T
ENST00000676708.1:n.1998G>T
ENST00000676864.1:n.1867G>T
ENST00000677010.1:c.754G>T	ENSP00000503089.1:p.Ala252Ser
ENST00000677108.1:n.2624G>T
ENST00000677168.1:n.1190G>T
ENST00000677185.1:n.1281G>T
ENST00000677205.1:n.1502G>T
ENST00000677344.1:n.1992G>T
ENST00000677480.1:c.*395G>T	ENSP00000504378.1:n.*395G>T
ENST00000677519.1:n.1428G>T
ENST00000677593.1:n.1274G>T
ENST00000677740.1:n.2223G>T
ENST00000677991.1:n.1891G>T
ENST00000678001.1:n.1211G>T
ENST00000678085.1:n.1274G>T
ENST00000678177.1:n.2567G>T
ENST00000678603.1:n.1796G>T
ENST00000678724.1:c.643G>T	ENSP00000503874.1:p.Ala215Ser
ENST00000678920.1:n.876G>T
ENST00000679019.1:n.1488G>T
ENST00000679117.1:c.*533G>T	ENSP00000503240.1:n.*533G>T
ENST00000679339.1:n.1559G>T
ENST00000326739.8:c.718G>T	ENSP00000321584.4:p.Ala240Ser
ENST00000429182.5:c.512G>T
ENST00000442157.1:c.643G>T	ENSP00000403502.1:p.Ala215Ser
ENST00000462980.1:n.620G>T
ENST00000491610.1:n.678G>T
NM_000884.2:c.718G>T	NP_000875.2:p.Ala240Ser
XM_006713128.2:c.928G>T	XP_006713191.1:p.Ala310Ser
XM_006713128.3:c.928G>T	XP_006713191.1:p.Ala310Ser
XM_017006349.1:c.853G>T	XP_016861838.1:p.Ala285Ser
XM_017006350.1:c.853G>T	XP_016861839.1:p.Ala285Ser
NM_000884.3:c.718G>T MANE Select	NP_000875.2:p.Ala240Ser