Canonical Allele Identifier: CA352740323

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064209G>C (hg19) ; chr3:g.49026776G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026776G>C , CM000665.2:g.49026776G>C	GRCh38
NC_000003.11:g.49064209G>C , CM000665.1:g.49064209G>C	GRCh37
NC_000003.10:g.49039213G>C	NCBI36
NG_012091.1:g.7667C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2770C>G	ENSP00000515567.1:p.Leu924Val
ENST00000703937.1:c.*1831C>G	ENSP00000515568.1:n.*1831C>G
ENST00000326739.9:c.730C>G MANE Select	ENSP00000321584.4:p.Leu244Val
ENST00000429182.6:c.730C>G	ENSP00000393525.2:p.Leu244Val
ENST00000442157.2:c.655C>G	ENSP00000403502.2:p.Leu219Val
ENST00000462980.2:n.1245C>G
ENST00000472328.2:n.796C>G
ENST00000491610.2:n.690C>G
ENST00000676607.1:n.1026C>G
ENST00000676627.1:n.1460C>G
ENST00000676708.1:n.2010C>G
ENST00000676864.1:n.1879C>G
ENST00000677010.1:c.766C>G	ENSP00000503089.1:p.Leu256Val
ENST00000677108.1:n.2636C>G
ENST00000677168.1:n.1202C>G
ENST00000677185.1:n.1293C>G
ENST00000677205.1:n.1514C>G
ENST00000677344.1:n.2004C>G
ENST00000677480.1:c.*407C>G	ENSP00000504378.1:n.*407C>G
ENST00000677519.1:n.1440C>G
ENST00000677593.1:n.1286C>G
ENST00000677740.1:n.2235C>G
ENST00000677991.1:n.1903C>G
ENST00000678001.1:n.1223C>G
ENST00000678085.1:n.1286C>G
ENST00000678177.1:n.2579C>G
ENST00000678603.1:n.1808C>G
ENST00000678724.1:c.655C>G	ENSP00000503874.1:p.Leu219Val
ENST00000678920.1:n.888C>G
ENST00000679019.1:n.1500C>G
ENST00000679117.1:c.*545C>G	ENSP00000503240.1:n.*545C>G
ENST00000679339.1:n.1571C>G
ENST00000326739.8:c.730C>G	ENSP00000321584.4:p.Leu244Val
ENST00000429182.5:c.524C>G
ENST00000442157.1:c.655C>G	ENSP00000403502.1:p.Leu219Val
ENST00000462980.1:n.632C>G
ENST00000491610.1:n.690C>G
NM_000884.2:c.730C>G	NP_000875.2:p.Leu244Val
XM_006713128.2:c.940C>G	XP_006713191.1:p.Leu314Val
XM_006713128.3:c.940C>G	XP_006713191.1:p.Leu314Val
XM_017006349.1:c.865C>G	XP_016861838.1:p.Leu289Val
XM_017006350.1:c.865C>G	XP_016861839.1:p.Leu289Val
NM_000884.3:c.730C>G MANE Select	NP_000875.2:p.Leu244Val