Canonical Allele Identifier: CA352740744

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064257T>G (hg19) ; chr3:g.49026824T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026824T>G , CM000665.2:g.49026824T>G	GRCh38
NC_000003.11:g.49064257T>G , CM000665.1:g.49064257T>G	GRCh37
NC_000003.10:g.49039261T>G	NCBI36
NG_012091.1:g.7619A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2722A>C	ENSP00000515567.1:p.Lys908Gln
ENST00000703937.1:c.*1783A>C	ENSP00000515568.1:n.*1783A>C
ENST00000326739.9:c.682A>C MANE Select	ENSP00000321584.4:p.Lys228Gln
ENST00000429182.6:c.682A>C	ENSP00000393525.2:p.Lys228Gln
ENST00000442157.2:c.607A>C	ENSP00000403502.2:p.Lys203Gln
ENST00000462980.2:n.1197A>C
ENST00000472328.2:n.748A>C
ENST00000491610.2:n.642A>C
ENST00000676607.1:n.978A>C
ENST00000676627.1:n.1412A>C
ENST00000676708.1:n.1962A>C
ENST00000676864.1:n.1831A>C
ENST00000677010.1:c.718A>C	ENSP00000503089.1:p.Lys240Gln
ENST00000677108.1:n.2588A>C
ENST00000677168.1:n.1154A>C
ENST00000677185.1:n.1245A>C
ENST00000677205.1:n.1466A>C
ENST00000677344.1:n.1956A>C
ENST00000677480.1:c.*359A>C	ENSP00000504378.1:n.*359A>C
ENST00000677519.1:n.1392A>C
ENST00000677593.1:n.1238A>C
ENST00000677740.1:n.2187A>C
ENST00000677991.1:n.1855A>C
ENST00000678001.1:n.1175A>C
ENST00000678085.1:n.1238A>C
ENST00000678177.1:n.2531A>C
ENST00000678603.1:n.1760A>C
ENST00000678724.1:c.607A>C	ENSP00000503874.1:p.Lys203Gln
ENST00000678920.1:n.840A>C
ENST00000679019.1:n.1452A>C
ENST00000679117.1:c.*497A>C	ENSP00000503240.1:n.*497A>C
ENST00000679339.1:n.1523A>C
ENST00000326739.8:c.682A>C	ENSP00000321584.4:p.Lys228Gln
ENST00000429182.5:c.476A>C
ENST00000442157.1:c.607A>C	ENSP00000403502.1:p.Lys203Gln
ENST00000462980.1:n.584A>C
ENST00000491610.1:n.642A>C
NM_000884.2:c.682A>C	NP_000875.2:p.Lys228Gln
XM_006713128.2:c.892A>C	XP_006713191.1:p.Lys298Gln
XM_006713128.3:c.892A>C	XP_006713191.1:p.Lys298Gln
XM_017006349.1:c.817A>C	XP_016861838.1:p.Lys273Gln
XM_017006350.1:c.817A>C	XP_016861839.1:p.Lys273Gln
NM_000884.3:c.682A>C MANE Select	NP_000875.2:p.Lys228Gln