Canonical Allele Identifier: CA433629341

Gene: IMPDH2

Linked Data

• gnomAD v4: 3-49026586-G-A
• MyVariant Identifiers: chr3:g.49064019G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026586G>A , CM000665.2:g.49026586G>A	GRCh38
NC_000003.11:g.49064019G>A , CM000665.1:g.49064019G>A	GRCh37
NC_000003.10:g.49039023G>A	NCBI36
NG_012091.1:g.7857C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703936.1:c.2883C>T	ENSP00000515567.1:p.Ile961=
ENST00000703937.1:c.*1944C>T	ENSP00000515568.1:n.*1944C>T
ENST00000326739.9:c.843C>T MANE Select	ENSP00000321584.4:p.Ile281=
ENST00000429182.6:c.843C>T	ENSP00000393525.2:p.Ile281=
ENST00000442157.2:c.768C>T	ENSP00000403502.2:p.Ile256=
ENST00000462980.2:n.1358C>T
ENST00000472328.2:n.909C>T
ENST00000491610.2:n.803C>T
ENST00000676607.1:n.1139C>T
ENST00000676627.1:n.1573C>T
ENST00000676708.1:n.2123C>T
ENST00000676864.1:n.1992C>T
ENST00000677010.1:c.867C>T	ENSP00000503089.1:p.Ile289=
ENST00000677108.1:n.2826C>T
ENST00000677168.1:n.1315C>T
ENST00000677185.1:n.1406C>T
ENST00000677205.1:n.1627C>T
ENST00000677344.1:n.2117C>T
ENST00000677480.1:c.*520C>T	ENSP00000504378.1:n.*520C>T
ENST00000677519.1:n.1553C>T
ENST00000677593.1:n.1399C>T
ENST00000677740.1:n.2348C>T
ENST00000677991.1:n.2016C>T
ENST00000678001.1:n.1336C>T
ENST00000678085.1:n.1476C>T
ENST00000678177.1:n.2769C>T
ENST00000678603.1:n.1921C>T
ENST00000678724.1:c.768C>T	ENSP00000503874.1:p.Ile256=
ENST00000678920.1:n.1001C>T
ENST00000679019.1:n.1690C>T
ENST00000679117.1:c.*658C>T	ENSP00000503240.1:n.*658C>T
ENST00000679339.1:n.1684C>T
ENST00000326739.8:c.843C>T	ENSP00000321584.4:p.Ile281=
ENST00000429182.5:c.637C>T
ENST00000442157.1:c.768C>T	ENSP00000403502.1:p.Ile256=
ENST00000462980.1:n.745C>T
ENST00000491610.1:n.803C>T
NM_000884.2:c.843C>T	NP_000875.2:p.Ile281=
XM_006713128.2:c.1053C>T	XP_006713191.1:p.Ile351=
XM_006713128.3:c.1053C>T	XP_006713191.1:p.Ile351=
XM_017006349.1:c.978C>T	XP_016861838.1:p.Ile326=
XM_017006350.1:c.978C>T	XP_016861839.1:p.Ile326=
NM_000884.3:c.843C>T MANE Select	NP_000875.2:p.Ile281=