Canonical Allele Identifier: CA433629684

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064285A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026852A>G , CM000665.2:g.49026852A>G	GRCh38
NC_000003.11:g.49064285A>G , CM000665.1:g.49064285A>G	GRCh37
NC_000003.10:g.49039289A>G	NCBI36
NG_012091.1:g.7591T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2694T>C	ENSP00000515567.1:p.Leu898=
ENST00000703937.1:c.*1755T>C	ENSP00000515568.1:n.*1755T>C
ENST00000326739.9:c.654T>C MANE Select	ENSP00000321584.4:p.Leu218=
ENST00000429182.6:c.654T>C	ENSP00000393525.2:p.Leu218=
ENST00000442157.2:c.579T>C	ENSP00000403502.2:p.Leu193=
ENST00000462980.2:n.1169T>C
ENST00000472328.2:n.720T>C
ENST00000491610.2:n.614T>C
ENST00000676607.1:n.950T>C
ENST00000676627.1:n.1384T>C
ENST00000676708.1:n.1934T>C
ENST00000676864.1:n.1803T>C
ENST00000677010.1:c.690T>C	ENSP00000503089.1:p.Leu230=
ENST00000677108.1:n.2560T>C
ENST00000677168.1:n.1126T>C
ENST00000677185.1:n.1217T>C
ENST00000677205.1:n.1438T>C
ENST00000677344.1:n.1928T>C
ENST00000677480.1:c.*331T>C	ENSP00000504378.1:n.*331T>C
ENST00000677519.1:n.1364T>C
ENST00000677593.1:n.1210T>C
ENST00000677740.1:n.2159T>C
ENST00000677991.1:n.1827T>C
ENST00000678001.1:n.1147T>C
ENST00000678085.1:n.1210T>C
ENST00000678177.1:n.2503T>C
ENST00000678603.1:n.1732T>C
ENST00000678724.1:c.579T>C	ENSP00000503874.1:p.Leu193=
ENST00000678920.1:n.812T>C
ENST00000679019.1:n.1424T>C
ENST00000679117.1:c.*469T>C	ENSP00000503240.1:n.*469T>C
ENST00000679339.1:n.1495T>C
ENST00000326739.8:c.654T>C	ENSP00000321584.4:p.Leu218=
ENST00000429182.5:c.448T>C
ENST00000442157.1:c.579T>C	ENSP00000403502.1:p.Leu193=
ENST00000462980.1:n.556T>C
ENST00000491610.1:n.614T>C
NM_000884.2:c.654T>C	NP_000875.2:p.Leu218=
XM_006713128.2:c.864T>C	XP_006713191.1:p.Leu288=
XM_006713128.3:c.864T>C	XP_006713191.1:p.Leu288=
XM_017006349.1:c.789T>C	XP_016861838.1:p.Leu263=
XM_017006350.1:c.789T>C	XP_016861839.1:p.Leu263=
NM_000884.3:c.654T>C MANE Select	NP_000875.2:p.Leu218=