Canonical Allele Identifier: CA352740439

Gene: IMPDH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2759C>G	ENSP00000515567.1:p.Ala920Gly
ENST00000703937.1:c.*1820C>G	ENSP00000515568.1:n.*1820C>G
ENST00000326739.9:c.719C>G MANE Select	ENSP00000321584.4:p.Ala240Gly
ENST00000429182.6:c.719C>G	ENSP00000393525.2:p.Ala240Gly
ENST00000442157.2:c.644C>G	ENSP00000403502.2:p.Ala215Gly
ENST00000462980.2:n.1234C>G
ENST00000472328.2:n.785C>G
ENST00000491610.2:n.679C>G
ENST00000676607.1:n.1015C>G
ENST00000676627.1:n.1449C>G
ENST00000676708.1:n.1999C>G
ENST00000676864.1:n.1868C>G
ENST00000677010.1:c.755C>G	ENSP00000503089.1:p.Ala252Gly
ENST00000677108.1:n.2625C>G
ENST00000677168.1:n.1191C>G
ENST00000677185.1:n.1282C>G
ENST00000677205.1:n.1503C>G
ENST00000677344.1:n.1993C>G
ENST00000677480.1:c.*396C>G	ENSP00000504378.1:n.*396C>G
ENST00000677519.1:n.1429C>G
ENST00000677593.1:n.1275C>G
ENST00000677740.1:n.2224C>G
ENST00000677991.1:n.1892C>G
ENST00000678001.1:n.1212C>G
ENST00000678085.1:n.1275C>G
ENST00000678177.1:n.2568C>G
ENST00000678603.1:n.1797C>G
ENST00000678724.1:c.644C>G	ENSP00000503874.1:p.Ala215Gly
ENST00000678920.1:n.877C>G
ENST00000679019.1:n.1489C>G
ENST00000679117.1:c.*534C>G	ENSP00000503240.1:n.*534C>G
ENST00000679339.1:n.1560C>G
ENST00000326739.8:c.719C>G	ENSP00000321584.4:p.Ala240Gly
ENST00000429182.5:c.513C>G
ENST00000442157.1:c.644C>G	ENSP00000403502.1:p.Ala215Gly
ENST00000462980.1:n.621C>G
ENST00000491610.1:n.679C>G
NM_000884.2:c.719C>G	NP_000875.2:p.Ala240Gly
XM_006713128.2:c.929C>G	XP_006713191.1:p.Ala310Gly
XM_006713128.3:c.929C>G	XP_006713191.1:p.Ala310Gly
XM_017006349.1:c.854C>G	XP_016861838.1:p.Ala285Gly
XM_017006350.1:c.854C>G	XP_016861839.1:p.Ala285Gly
NM_000884.3:c.719C>G MANE Select	NP_000875.2:p.Ala240Gly