Canonical Allele Identifier: CA352741290

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064316T>A (hg19) ; chr3:g.49026883T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026883T>A , CM000665.2:g.49026883T>A	GRCh38
NC_000003.11:g.49064316T>A , CM000665.1:g.49064316T>A	GRCh37
NC_000003.10:g.49039320T>A	NCBI36
NG_012091.1:g.7560A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2663A>T	ENSP00000515567.1:p.Lys888Met
ENST00000703937.1:c.*1724A>T	ENSP00000515568.1:n.*1724A>T
ENST00000326739.9:c.623A>T MANE Select	ENSP00000321584.4:p.Lys208Met
ENST00000429182.6:c.623A>T	ENSP00000393525.2:p.Lys208Met
ENST00000442157.2:c.548A>T	ENSP00000403502.2:p.Lys183Met
ENST00000462980.2:n.1138A>T
ENST00000472328.2:n.689A>T
ENST00000491610.2:n.583A>T
ENST00000676607.1:n.919A>T
ENST00000676627.1:n.1353A>T
ENST00000676708.1:n.1903A>T
ENST00000676864.1:n.1772A>T
ENST00000677010.1:c.659A>T	ENSP00000503089.1:p.Lys220Met
ENST00000677108.1:n.2529A>T
ENST00000677168.1:n.1095A>T
ENST00000677185.1:n.1186A>T
ENST00000677205.1:n.1407A>T
ENST00000677344.1:n.1897A>T
ENST00000677480.1:c.*300A>T	ENSP00000504378.1:n.*300A>T
ENST00000677519.1:n.1333A>T
ENST00000677593.1:n.1179A>T
ENST00000677740.1:n.2128A>T
ENST00000677991.1:n.1796A>T
ENST00000678001.1:n.1116A>T
ENST00000678085.1:n.1179A>T
ENST00000678177.1:n.2472A>T
ENST00000678603.1:n.1701A>T
ENST00000678724.1:c.548A>T	ENSP00000503874.1:p.Lys183Met
ENST00000678920.1:n.781A>T
ENST00000679019.1:n.1393A>T
ENST00000679117.1:c.*438A>T	ENSP00000503240.1:n.*438A>T
ENST00000679339.1:n.1464A>T
ENST00000326739.8:c.623A>T	ENSP00000321584.4:p.Lys208Met
ENST00000429182.5:c.417A>T
ENST00000442157.1:c.548A>T	ENSP00000403502.1:p.Lys183Met
ENST00000462980.1:n.525A>T
ENST00000491610.1:n.583A>T
NM_000884.2:c.623A>T	NP_000875.2:p.Lys208Met
XM_006713128.2:c.833A>T	XP_006713191.1:p.Lys278Met
XM_006713128.3:c.833A>T	XP_006713191.1:p.Lys278Met
XM_017006349.1:c.758A>T	XP_016861838.1:p.Lys253Met
XM_017006350.1:c.758A>T	XP_016861839.1:p.Lys253Met
NM_000884.3:c.623A>T MANE Select	NP_000875.2:p.Lys208Met