Canonical Allele Identifier: CA352740440

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064220G>T (hg19) ; chr3:g.49026787G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026787G>T , CM000665.2:g.49026787G>T	GRCh38
NC_000003.11:g.49064220G>T , CM000665.1:g.49064220G>T	GRCh37
NC_000003.10:g.49039224G>T	NCBI36
NG_012091.1:g.7656C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2759C>A	ENSP00000515567.1:p.Ala920Asp
ENST00000703937.1:c.*1820C>A	ENSP00000515568.1:n.*1820C>A
ENST00000326739.9:c.719C>A MANE Select	ENSP00000321584.4:p.Ala240Asp
ENST00000429182.6:c.719C>A	ENSP00000393525.2:p.Ala240Asp
ENST00000442157.2:c.644C>A	ENSP00000403502.2:p.Ala215Asp
ENST00000462980.2:n.1234C>A
ENST00000472328.2:n.785C>A
ENST00000491610.2:n.679C>A
ENST00000676607.1:n.1015C>A
ENST00000676627.1:n.1449C>A
ENST00000676708.1:n.1999C>A
ENST00000676864.1:n.1868C>A
ENST00000677010.1:c.755C>A	ENSP00000503089.1:p.Ala252Asp
ENST00000677108.1:n.2625C>A
ENST00000677168.1:n.1191C>A
ENST00000677185.1:n.1282C>A
ENST00000677205.1:n.1503C>A
ENST00000677344.1:n.1993C>A
ENST00000677480.1:c.*396C>A	ENSP00000504378.1:n.*396C>A
ENST00000677519.1:n.1429C>A
ENST00000677593.1:n.1275C>A
ENST00000677740.1:n.2224C>A
ENST00000677991.1:n.1892C>A
ENST00000678001.1:n.1212C>A
ENST00000678085.1:n.1275C>A
ENST00000678177.1:n.2568C>A
ENST00000678603.1:n.1797C>A
ENST00000678724.1:c.644C>A	ENSP00000503874.1:p.Ala215Asp
ENST00000678920.1:n.877C>A
ENST00000679019.1:n.1489C>A
ENST00000679117.1:c.*534C>A	ENSP00000503240.1:n.*534C>A
ENST00000679339.1:n.1560C>A
ENST00000326739.8:c.719C>A	ENSP00000321584.4:p.Ala240Asp
ENST00000429182.5:c.513C>A
ENST00000442157.1:c.644C>A	ENSP00000403502.1:p.Ala215Asp
ENST00000462980.1:n.621C>A
ENST00000491610.1:n.679C>A
NM_000884.2:c.719C>A	NP_000875.2:p.Ala240Asp
XM_006713128.2:c.929C>A	XP_006713191.1:p.Ala310Asp
XM_006713128.3:c.929C>A	XP_006713191.1:p.Ala310Asp
XM_017006349.1:c.854C>A	XP_016861838.1:p.Ala285Asp
XM_017006350.1:c.854C>A	XP_016861839.1:p.Ala285Asp
NM_000884.3:c.719C>A MANE Select	NP_000875.2:p.Ala240Asp