Canonical Allele Identifier: CA433629573

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064216C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026783C>T , CM000665.2:g.49026783C>T	GRCh38
NC_000003.11:g.49064216C>T , CM000665.1:g.49064216C>T	GRCh37
NC_000003.10:g.49039220C>T	NCBI36
NG_012091.1:g.7660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2763G>A	ENSP00000515567.1:p.Lys921=
ENST00000703937.1:c.*1824G>A	ENSP00000515568.1:n.*1824G>A
ENST00000326739.9:c.723G>A MANE Select	ENSP00000321584.4:p.Lys241=
ENST00000429182.6:c.723G>A	ENSP00000393525.2:p.Lys241=
ENST00000442157.2:c.648G>A	ENSP00000403502.2:p.Lys216=
ENST00000462980.2:n.1238G>A
ENST00000472328.2:n.789G>A
ENST00000491610.2:n.683G>A
ENST00000676607.1:n.1019G>A
ENST00000676627.1:n.1453G>A
ENST00000676708.1:n.2003G>A
ENST00000676864.1:n.1872G>A
ENST00000677010.1:c.759G>A	ENSP00000503089.1:p.Lys253=
ENST00000677108.1:n.2629G>A
ENST00000677168.1:n.1195G>A
ENST00000677185.1:n.1286G>A
ENST00000677205.1:n.1507G>A
ENST00000677344.1:n.1997G>A
ENST00000677480.1:c.*400G>A	ENSP00000504378.1:n.*400G>A
ENST00000677519.1:n.1433G>A
ENST00000677593.1:n.1279G>A
ENST00000677740.1:n.2228G>A
ENST00000677991.1:n.1896G>A
ENST00000678001.1:n.1216G>A
ENST00000678085.1:n.1279G>A
ENST00000678177.1:n.2572G>A
ENST00000678603.1:n.1801G>A
ENST00000678724.1:c.648G>A	ENSP00000503874.1:p.Lys216=
ENST00000678920.1:n.881G>A
ENST00000679019.1:n.1493G>A
ENST00000679117.1:c.*538G>A	ENSP00000503240.1:n.*538G>A
ENST00000679339.1:n.1564G>A
ENST00000326739.8:c.723G>A	ENSP00000321584.4:p.Lys241=
ENST00000429182.5:c.517G>A
ENST00000442157.1:c.648G>A	ENSP00000403502.1:p.Lys216=
ENST00000462980.1:n.625G>A
ENST00000491610.1:n.683G>A
NM_000884.2:c.723G>A	NP_000875.2:p.Lys241=
XM_006713128.2:c.933G>A	XP_006713191.1:p.Lys311=
XM_006713128.3:c.933G>A	XP_006713191.1:p.Lys311=
XM_017006349.1:c.858G>A	XP_016861838.1:p.Lys286=
XM_017006350.1:c.858G>A	XP_016861839.1:p.Lys286=
NM_000884.3:c.723G>A MANE Select	NP_000875.2:p.Lys241=