Canonical Allele Identifier: CA352740519

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064232G>T (hg19) ; chr3:g.49026799G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026799G>T , CM000665.2:g.49026799G>T	GRCh38
NC_000003.11:g.49064232G>T , CM000665.1:g.49064232G>T	GRCh37
NC_000003.10:g.49039236G>T	NCBI36
NG_012091.1:g.7644C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2747C>A	ENSP00000515567.1:p.Ala916Asp
ENST00000703937.1:c.*1808C>A	ENSP00000515568.1:n.*1808C>A
ENST00000326739.9:c.707C>A MANE Select	ENSP00000321584.4:p.Ala236Asp
ENST00000429182.6:c.707C>A	ENSP00000393525.2:p.Ala236Asp
ENST00000442157.2:c.632C>A	ENSP00000403502.2:p.Ala211Asp
ENST00000462980.2:n.1222C>A
ENST00000472328.2:n.773C>A
ENST00000491610.2:n.667C>A
ENST00000676607.1:n.1003C>A
ENST00000676627.1:n.1437C>A
ENST00000676708.1:n.1987C>A
ENST00000676864.1:n.1856C>A
ENST00000677010.1:c.743C>A	ENSP00000503089.1:p.Ala248Asp
ENST00000677108.1:n.2613C>A
ENST00000677168.1:n.1179C>A
ENST00000677185.1:n.1270C>A
ENST00000677205.1:n.1491C>A
ENST00000677344.1:n.1981C>A
ENST00000677480.1:c.*384C>A	ENSP00000504378.1:n.*384C>A
ENST00000677519.1:n.1417C>A
ENST00000677593.1:n.1263C>A
ENST00000677740.1:n.2212C>A
ENST00000677991.1:n.1880C>A
ENST00000678001.1:n.1200C>A
ENST00000678085.1:n.1263C>A
ENST00000678177.1:n.2556C>A
ENST00000678603.1:n.1785C>A
ENST00000678724.1:c.632C>A	ENSP00000503874.1:p.Ala211Asp
ENST00000678920.1:n.865C>A
ENST00000679019.1:n.1477C>A
ENST00000679117.1:c.*522C>A	ENSP00000503240.1:n.*522C>A
ENST00000679339.1:n.1548C>A
ENST00000326739.8:c.707C>A	ENSP00000321584.4:p.Ala236Asp
ENST00000429182.5:c.501C>A
ENST00000442157.1:c.632C>A	ENSP00000403502.1:p.Ala211Asp
ENST00000462980.1:n.609C>A
ENST00000491610.1:n.667C>A
NM_000884.2:c.707C>A	NP_000875.2:p.Ala236Asp
XM_006713128.2:c.917C>A	XP_006713191.1:p.Ala306Asp
XM_006713128.3:c.917C>A	XP_006713191.1:p.Ala306Asp
XM_017006349.1:c.842C>A	XP_016861838.1:p.Ala281Asp
XM_017006350.1:c.842C>A	XP_016861839.1:p.Ala281Asp
NM_000884.3:c.707C>A MANE Select	NP_000875.2:p.Ala236Asp