Canonical Allele Identifier: CA352739962

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064152G>T (hg19) ; chr3:g.49026719G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026719G>T , CM000665.2:g.49026719G>T	GRCh38
NC_000003.11:g.49064152G>T , CM000665.1:g.49064152G>T	GRCh37
NC_000003.10:g.49039156G>T	NCBI36
NG_012091.1:g.7724C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2827C>A	ENSP00000515567.1:p.Leu943Ile
ENST00000703937.1:c.*1888C>A	ENSP00000515568.1:n.*1888C>A
ENST00000326739.9:c.787C>A MANE Select	ENSP00000321584.4:p.Leu263Ile
ENST00000429182.6:c.787C>A	ENSP00000393525.2:p.Leu263Ile
ENST00000442157.2:c.712C>A	ENSP00000403502.2:p.Leu238Ile
ENST00000462980.2:n.1302C>A
ENST00000472328.2:n.853C>A
ENST00000491610.2:n.747C>A
ENST00000676607.1:n.1083C>A
ENST00000676627.1:n.1517C>A
ENST00000676708.1:n.2067C>A
ENST00000676864.1:n.1936C>A
ENST00000677010.1:c.823C>A	ENSP00000503089.1:p.Leu275Ile
ENST00000677108.1:n.2693C>A
ENST00000677168.1:n.1259C>A
ENST00000677185.1:n.1350C>A
ENST00000677205.1:n.1571C>A
ENST00000677344.1:n.2061C>A
ENST00000677480.1:c.*464C>A	ENSP00000504378.1:n.*464C>A
ENST00000677519.1:n.1497C>A
ENST00000677593.1:n.1343C>A
ENST00000677740.1:n.2292C>A
ENST00000677991.1:n.1960C>A
ENST00000678001.1:n.1280C>A
ENST00000678085.1:n.1343C>A
ENST00000678177.1:n.2636C>A
ENST00000678603.1:n.1865C>A
ENST00000678724.1:c.712C>A	ENSP00000503874.1:p.Leu238Ile
ENST00000678920.1:n.945C>A
ENST00000679019.1:n.1557C>A
ENST00000679117.1:c.*602C>A	ENSP00000503240.1:n.*602C>A
ENST00000679339.1:n.1628C>A
ENST00000326739.8:c.787C>A	ENSP00000321584.4:p.Leu263Ile
ENST00000429182.5:c.581C>A
ENST00000442157.1:c.712C>A	ENSP00000403502.1:p.Leu238Ile
ENST00000462980.1:n.689C>A
ENST00000491610.1:n.747C>A
NM_000884.2:c.787C>A	NP_000875.2:p.Leu263Ile
XM_006713128.2:c.997C>A	XP_006713191.1:p.Leu333Ile
XM_006713128.3:c.997C>A	XP_006713191.1:p.Leu333Ile
XM_017006349.1:c.922C>A	XP_016861838.1:p.Leu308Ile
XM_017006350.1:c.922C>A	XP_016861839.1:p.Leu308Ile
NM_000884.3:c.787C>A MANE Select	NP_000875.2:p.Leu263Ile