Canonical Allele Identifier: CA352740761

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064261G>C (hg19) ; chr3:g.49026828G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026828G>C , CM000665.2:g.49026828G>C	GRCh38
NC_000003.11:g.49064261G>C , CM000665.1:g.49064261G>C	GRCh37
NC_000003.10:g.49039265G>C	NCBI36
NG_012091.1:g.7615C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2718C>G	ENSP00000515567.1:p.Asp906Glu
ENST00000703937.1:c.*1779C>G	ENSP00000515568.1:n.*1779C>G
ENST00000326739.9:c.678C>G MANE Select	ENSP00000321584.4:p.Asp226Glu
ENST00000429182.6:c.678C>G	ENSP00000393525.2:p.Asp226Glu
ENST00000442157.2:c.603C>G	ENSP00000403502.2:p.Asp201Glu
ENST00000462980.2:n.1193C>G
ENST00000472328.2:n.744C>G
ENST00000491610.2:n.638C>G
ENST00000676607.1:n.974C>G
ENST00000676627.1:n.1408C>G
ENST00000676708.1:n.1958C>G
ENST00000676864.1:n.1827C>G
ENST00000677010.1:c.714C>G	ENSP00000503089.1:p.Asp238Glu
ENST00000677108.1:n.2584C>G
ENST00000677168.1:n.1150C>G
ENST00000677185.1:n.1241C>G
ENST00000677205.1:n.1462C>G
ENST00000677344.1:n.1952C>G
ENST00000677480.1:c.*355C>G	ENSP00000504378.1:n.*355C>G
ENST00000677519.1:n.1388C>G
ENST00000677593.1:n.1234C>G
ENST00000677740.1:n.2183C>G
ENST00000677991.1:n.1851C>G
ENST00000678001.1:n.1171C>G
ENST00000678085.1:n.1234C>G
ENST00000678177.1:n.2527C>G
ENST00000678603.1:n.1756C>G
ENST00000678724.1:c.603C>G	ENSP00000503874.1:p.Asp201Glu
ENST00000678920.1:n.836C>G
ENST00000679019.1:n.1448C>G
ENST00000679117.1:c.*493C>G	ENSP00000503240.1:n.*493C>G
ENST00000679339.1:n.1519C>G
ENST00000326739.8:c.678C>G	ENSP00000321584.4:p.Asp226Glu
ENST00000429182.5:c.472C>G
ENST00000442157.1:c.603C>G	ENSP00000403502.1:p.Asp201Glu
ENST00000462980.1:n.580C>G
ENST00000491610.1:n.638C>G
NM_000884.2:c.678C>G	NP_000875.2:p.Asp226Glu
XM_006713128.2:c.888C>G	XP_006713191.1:p.Asp296Glu
XM_006713128.3:c.888C>G	XP_006713191.1:p.Asp296Glu
XM_017006349.1:c.813C>G	XP_016861838.1:p.Asp271Glu
XM_017006350.1:c.813C>G	XP_016861839.1:p.Asp271Glu
NM_000884.3:c.678C>G MANE Select	NP_000875.2:p.Asp226Glu