Canonical Allele Identifier: CA352740457

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064224C>T (hg19) ; chr3:g.49026791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026791C>T , CM000665.2:g.49026791C>T	GRCh38
NC_000003.11:g.49064224C>T , CM000665.1:g.49064224C>T	GRCh37
NC_000003.10:g.49039228C>T	NCBI36
NG_012091.1:g.7652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2755G>A	ENSP00000515567.1:p.Asp919Asn
ENST00000703937.1:c.*1816G>A	ENSP00000515568.1:n.*1816G>A
ENST00000326739.9:c.715G>A MANE Select	ENSP00000321584.4:p.Asp239Asn
ENST00000429182.6:c.715G>A	ENSP00000393525.2:p.Asp239Asn
ENST00000442157.2:c.640G>A	ENSP00000403502.2:p.Asp214Asn
ENST00000462980.2:n.1230G>A
ENST00000472328.2:n.781G>A
ENST00000491610.2:n.675G>A
ENST00000676607.1:n.1011G>A
ENST00000676627.1:n.1445G>A
ENST00000676708.1:n.1995G>A
ENST00000676864.1:n.1864G>A
ENST00000677010.1:c.751G>A	ENSP00000503089.1:p.Asp251Asn
ENST00000677108.1:n.2621G>A
ENST00000677168.1:n.1187G>A
ENST00000677185.1:n.1278G>A
ENST00000677205.1:n.1499G>A
ENST00000677344.1:n.1989G>A
ENST00000677480.1:c.*392G>A	ENSP00000504378.1:n.*392G>A
ENST00000677519.1:n.1425G>A
ENST00000677593.1:n.1271G>A
ENST00000677740.1:n.2220G>A
ENST00000677991.1:n.1888G>A
ENST00000678001.1:n.1208G>A
ENST00000678085.1:n.1271G>A
ENST00000678177.1:n.2564G>A
ENST00000678603.1:n.1793G>A
ENST00000678724.1:c.640G>A	ENSP00000503874.1:p.Asp214Asn
ENST00000678920.1:n.873G>A
ENST00000679019.1:n.1485G>A
ENST00000679117.1:c.*530G>A	ENSP00000503240.1:n.*530G>A
ENST00000679339.1:n.1556G>A
ENST00000326739.8:c.715G>A	ENSP00000321584.4:p.Asp239Asn
ENST00000429182.5:c.509G>A
ENST00000442157.1:c.640G>A	ENSP00000403502.1:p.Asp214Asn
ENST00000462980.1:n.617G>A
ENST00000491610.1:n.675G>A
NM_000884.2:c.715G>A	NP_000875.2:p.Asp239Asn
XM_006713128.2:c.925G>A	XP_006713191.1:p.Asp309Asn
XM_006713128.3:c.925G>A	XP_006713191.1:p.Asp309Asn
XM_017006349.1:c.850G>A	XP_016861838.1:p.Asp284Asn
XM_017006350.1:c.850G>A	XP_016861839.1:p.Asp284Asn
NM_000884.3:c.715G>A MANE Select	NP_000875.2:p.Asp239Asn