Canonical Allele Identifier: CA352740498

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064227T>C (hg19) ; chr3:g.49026794T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026794T>C , CM000665.2:g.49026794T>C	GRCh38
NC_000003.11:g.49064227T>C , CM000665.1:g.49064227T>C	GRCh37
NC_000003.10:g.49039231T>C	NCBI36
NG_012091.1:g.7649A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2752A>G	ENSP00000515567.1:p.Lys918Glu
ENST00000703937.1:c.*1813A>G	ENSP00000515568.1:n.*1813A>G
ENST00000326739.9:c.712A>G MANE Select	ENSP00000321584.4:p.Lys238Glu
ENST00000429182.6:c.712A>G	ENSP00000393525.2:p.Lys238Glu
ENST00000442157.2:c.637A>G	ENSP00000403502.2:p.Lys213Glu
ENST00000462980.2:n.1227A>G
ENST00000472328.2:n.778A>G
ENST00000491610.2:n.672A>G
ENST00000676607.1:n.1008A>G
ENST00000676627.1:n.1442A>G
ENST00000676708.1:n.1992A>G
ENST00000676864.1:n.1861A>G
ENST00000677010.1:c.748A>G	ENSP00000503089.1:p.Lys250Glu
ENST00000677108.1:n.2618A>G
ENST00000677168.1:n.1184A>G
ENST00000677185.1:n.1275A>G
ENST00000677205.1:n.1496A>G
ENST00000677344.1:n.1986A>G
ENST00000677480.1:c.*389A>G	ENSP00000504378.1:n.*389A>G
ENST00000677519.1:n.1422A>G
ENST00000677593.1:n.1268A>G
ENST00000677740.1:n.2217A>G
ENST00000677991.1:n.1885A>G
ENST00000678001.1:n.1205A>G
ENST00000678085.1:n.1268A>G
ENST00000678177.1:n.2561A>G
ENST00000678603.1:n.1790A>G
ENST00000678724.1:c.637A>G	ENSP00000503874.1:p.Lys213Glu
ENST00000678920.1:n.870A>G
ENST00000679019.1:n.1482A>G
ENST00000679117.1:c.*527A>G	ENSP00000503240.1:n.*527A>G
ENST00000679339.1:n.1553A>G
ENST00000326739.8:c.712A>G	ENSP00000321584.4:p.Lys238Glu
ENST00000429182.5:c.506A>G
ENST00000442157.1:c.637A>G	ENSP00000403502.1:p.Lys213Glu
ENST00000462980.1:n.614A>G
ENST00000491610.1:n.672A>G
NM_000884.2:c.712A>G	NP_000875.2:p.Lys238Glu
XM_006713128.2:c.922A>G	XP_006713191.1:p.Lys308Glu
XM_006713128.3:c.922A>G	XP_006713191.1:p.Lys308Glu
XM_017006349.1:c.847A>G	XP_016861838.1:p.Lys283Glu
XM_017006350.1:c.847A>G	XP_016861839.1:p.Lys283Glu
NM_000884.3:c.712A>G MANE Select	NP_000875.2:p.Lys238Glu