Canonical Allele Identifier: CA352535491

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47084145G>A , CM000665.2:g.47084145G>A	GRCh38
NC_000003.11:g.47125635G>A , CM000665.1:g.47125635G>A	GRCh37
NC_000003.10:g.47100639G>A	NCBI36
NG_032091.1:g.84833C>T , LRG_775:g.84833C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.5635C>T MANE Select	NP_054878.5:p.Arg1879Cys
ENST00000409792.4:c.5635C>T MANE Select	ENSP00000386759.3:p.Arg1879Cys
NM_001349370.1:c.5503C>T	NP_001336299.1:p.Arg1835Cys
NM_001349370.2:c.5503C>T	NP_001336299.1:p.Arg1835Cys
NM_001349370.3:c.5503C>T	NP_001336299.1:p.Arg1835Cys
NM_014159.6:c.5635C>T , LRG_775t1:c.5635C>T	NP_054878.5:p.Arg1879Cys
NR_146158.1:n.5688C>T
NR_146158.2:n.5824C>T
NR_146158.3:n.5824C>T
ENST00000330022.11:c.5455C>T
ENST00000409792.3:c.5635C>T	ENSP00000386759.3:p.Arg1879Cys
ENST00000431180.5:c.4663C>T
ENST00000445387.5:c.4535C>T
ENST00000638947.1:c.1285C>T	ENSP00000491413.1:p.Arg429Cys
ENST00000638947.2:c.5503C>T	ENSP00000491413.2:p.Arg1835Cys
ENST00000685005.1:c.5401C>T	ENSP00000509568.1:p.Arg1801Cys
ENST00000685237.1:n.2344C>T
ENST00000685399.1:c.3515C>T
ENST00000685505.1:c.3576C>T
ENST00000686773.1:c.3515C>T
ENST00000686876.1:c.2351C>T
ENST00000688290.1:c.3515C>T
ENST00000690157.1:c.2413+2050C>T
ENST00000690461.1:c.3799C>T	ENSP00000509352.1:p.Arg1267Cys
ENST00000691544.1:c.691C>T	ENSP00000510710.1:p.Arg231Cys
ENST00000691902.1:c.1856-17027C>T
ENST00000692362.1:n.1440C>T
ENST00000692883.1:c.3576C>T
ENST00000693321.1:c.3515C>T
ENST00000693738.1:n.742C>T
XM_011533631.1:c.5713C>T	XP_011531933.1:p.Arg1905Cys
XM_011533632.1:c.5659C>T	XP_011531934.1:p.Arg1887Cys
XM_011533632.3:c.5659C>T	XP_011531934.1:p.Arg1887Cys
XM_011533633.1:c.5578C>T	XP_011531935.1:p.Arg1860Cys
XM_011533634.1:c.5503C>T	XP_011531936.1:p.Arg1835Cys
XM_024453487.1:c.5368C>T	XP_024309255.1:p.Arg1790Cys
XM_024453488.1:c.5203C>T	XP_024309256.1:p.Arg1735Cys
XR_001740131.2:n.5388C>T
XR_002959510.1:n.5564C>T
XR_002959511.1:n.5564C>T
XR_002959512.1:n.5564C>T
XR_002959513.1:n.5564C>T
XR_002959514.1:n.5564C>T
XR_002959515.1:n.5429C>T
XR_002959516.1:n.5466C>T
XR_002959517.1:n.5466C>T
XR_940418.1:n.5728C>T
XR_940419.1:n.5816C>T
XR_940420.1:n.5816C>T