Canonical Allele Identifier: CA352740805

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064268C>A (hg19) ; chr3:g.49026835C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026835C>A , CM000665.2:g.49026835C>A	GRCh38
NC_000003.11:g.49064268C>A , CM000665.1:g.49064268C>A	GRCh37
NC_000003.10:g.49039272C>A	NCBI36
NG_012091.1:g.7608G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2711G>T	ENSP00000515567.1:p.Arg904Leu
ENST00000703937.1:c.*1772G>T	ENSP00000515568.1:n.*1772G>T
ENST00000326739.9:c.671G>T MANE Select	ENSP00000321584.4:p.Arg224Leu
ENST00000429182.6:c.671G>T	ENSP00000393525.2:p.Arg224Leu
ENST00000442157.2:c.596G>T	ENSP00000403502.2:p.Arg199Leu
ENST00000462980.2:n.1186G>T
ENST00000472328.2:n.737G>T
ENST00000491610.2:n.631G>T
ENST00000676607.1:n.967G>T
ENST00000676627.1:n.1401G>T
ENST00000676708.1:n.1951G>T
ENST00000676864.1:n.1820G>T
ENST00000677010.1:c.707G>T	ENSP00000503089.1:p.Arg236Leu
ENST00000677108.1:n.2577G>T
ENST00000677168.1:n.1143G>T
ENST00000677185.1:n.1234G>T
ENST00000677205.1:n.1455G>T
ENST00000677344.1:n.1945G>T
ENST00000677480.1:c.*348G>T	ENSP00000504378.1:n.*348G>T
ENST00000677519.1:n.1381G>T
ENST00000677593.1:n.1227G>T
ENST00000677740.1:n.2176G>T
ENST00000677991.1:n.1844G>T
ENST00000678001.1:n.1164G>T
ENST00000678085.1:n.1227G>T
ENST00000678177.1:n.2520G>T
ENST00000678603.1:n.1749G>T
ENST00000678724.1:c.596G>T	ENSP00000503874.1:p.Arg199Leu
ENST00000678920.1:n.829G>T
ENST00000679019.1:n.1441G>T
ENST00000679117.1:c.*486G>T	ENSP00000503240.1:n.*486G>T
ENST00000679339.1:n.1512G>T
ENST00000326739.8:c.671G>T	ENSP00000321584.4:p.Arg224Leu
ENST00000429182.5:c.465G>T
ENST00000442157.1:c.596G>T	ENSP00000403502.1:p.Arg199Leu
ENST00000462980.1:n.573G>T
ENST00000491610.1:n.631G>T
NM_000884.2:c.671G>T	NP_000875.2:p.Arg224Leu
XM_006713128.2:c.881G>T	XP_006713191.1:p.Arg294Leu
XM_006713128.3:c.881G>T	XP_006713191.1:p.Arg294Leu
XM_017006349.1:c.806G>T	XP_016861838.1:p.Arg269Leu
XM_017006350.1:c.806G>T	XP_016861839.1:p.Arg269Leu
NM_000884.3:c.671G>T MANE Select	NP_000875.2:p.Arg224Leu