Canonical Allele Identifier: CA352740241

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064196G>C (hg19) ; chr3:g.49026763G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026763G>C , CM000665.2:g.49026763G>C	GRCh38
NC_000003.11:g.49064196G>C , CM000665.1:g.49064196G>C	GRCh37
NC_000003.10:g.49039200G>C	NCBI36
NG_012091.1:g.7680C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2783C>G	ENSP00000515567.1:p.Ala928Gly
ENST00000703937.1:c.*1844C>G	ENSP00000515568.1:n.*1844C>G
ENST00000326739.9:c.743C>G MANE Select	ENSP00000321584.4:p.Ala248Gly
ENST00000429182.6:c.743C>G	ENSP00000393525.2:p.Ala248Gly
ENST00000442157.2:c.668C>G	ENSP00000403502.2:p.Ala223Gly
ENST00000462980.2:n.1258C>G
ENST00000472328.2:n.809C>G
ENST00000491610.2:n.703C>G
ENST00000676607.1:n.1039C>G
ENST00000676627.1:n.1473C>G
ENST00000676708.1:n.2023C>G
ENST00000676864.1:n.1892C>G
ENST00000677010.1:c.779C>G	ENSP00000503089.1:p.Ala260Gly
ENST00000677108.1:n.2649C>G
ENST00000677168.1:n.1215C>G
ENST00000677185.1:n.1306C>G
ENST00000677205.1:n.1527C>G
ENST00000677344.1:n.2017C>G
ENST00000677480.1:c.*420C>G	ENSP00000504378.1:n.*420C>G
ENST00000677519.1:n.1453C>G
ENST00000677593.1:n.1299C>G
ENST00000677740.1:n.2248C>G
ENST00000677991.1:n.1916C>G
ENST00000678001.1:n.1236C>G
ENST00000678085.1:n.1299C>G
ENST00000678177.1:n.2592C>G
ENST00000678603.1:n.1821C>G
ENST00000678724.1:c.668C>G	ENSP00000503874.1:p.Ala223Gly
ENST00000678920.1:n.901C>G
ENST00000679019.1:n.1513C>G
ENST00000679117.1:c.*558C>G	ENSP00000503240.1:n.*558C>G
ENST00000679339.1:n.1584C>G
ENST00000326739.8:c.743C>G	ENSP00000321584.4:p.Ala248Gly
ENST00000429182.5:c.537C>G
ENST00000442157.1:c.668C>G	ENSP00000403502.1:p.Ala223Gly
ENST00000462980.1:n.645C>G
ENST00000491610.1:n.703C>G
NM_000884.2:c.743C>G	NP_000875.2:p.Ala248Gly
XM_006713128.2:c.953C>G	XP_006713191.1:p.Ala318Gly
XM_006713128.3:c.953C>G	XP_006713191.1:p.Ala318Gly
XM_017006349.1:c.878C>G	XP_016861838.1:p.Ala293Gly
XM_017006350.1:c.878C>G	XP_016861839.1:p.Ala293Gly
NM_000884.3:c.743C>G MANE Select	NP_000875.2:p.Ala248Gly