Canonical Allele Identifier: CA352516528

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47116722C>T , CM000665.2:g.47116722C>T	GRCh38
NC_000003.11:g.47158212C>T , CM000665.1:g.47158212C>T	GRCh37
NC_000003.10:g.47133216C>T	NCBI36
NG_032091.1:g.52256G>A , LRG_775:g.52256G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.4487G>A MANE Select	NP_054878.5:p.Arg1496Gln
ENST00000409792.4:c.4487G>A MANE Select	ENSP00000386759.3:p.Arg1496Gln
NM_001349370.1:c.4355G>A	NP_001336299.1:p.Arg1452Gln
NM_001349370.2:c.4355G>A	NP_001336299.1:p.Arg1452Gln
NM_001349370.3:c.4355G>A	NP_001336299.1:p.Arg1452Gln
NM_014159.6:c.4487G>A , LRG_775t1:c.4487G>A	NP_054878.5:p.Arg1496Gln
NR_146158.1:n.4540G>A
NR_146158.2:n.4676G>A
NR_146158.3:n.4676G>A
ENST00000330022.11:c.4431G>A
ENST00000409792.3:c.4487G>A	ENSP00000386759.3:p.Arg1496Gln
ENST00000431180.5:c.3639G>A
ENST00000445387.5:c.3387G>A
ENST00000638947.1:c.137G>A	ENSP00000491413.1:p.Arg46Gln
ENST00000638947.2:c.4355G>A	ENSP00000491413.2:p.Arg1452Gln
ENST00000685005.1:c.4388G>A	ENSP00000509568.1:p.Arg1463Gln
ENST00000685399.1:c.2367G>A
ENST00000685505.1:c.2428G>A
ENST00000686773.1:c.2367G>A
ENST00000686876.1:c.1503G>A
ENST00000688290.1:c.2367G>A
ENST00000690157.1:c.1503G>A
ENST00000690461.1:c.2651G>A	ENSP00000509352.1:p.Arg884Gln
ENST00000691544.1:c.72-18641G>A	ENSP00000510710.1:n.72-18641G>A
ENST00000691902.1:c.1503G>A
ENST00000692362.1:n.292G>A
ENST00000692883.1:c.2428G>A
ENST00000693321.1:c.2367G>A
XM_011533631.1:c.4565G>A	XP_011531933.1:p.Arg1522Gln
XM_011533632.1:c.4511G>A	XP_011531934.1:p.Arg1504Gln
XM_011533632.3:c.4511G>A	XP_011531934.1:p.Arg1504Gln
XM_011533633.1:c.4565G>A	XP_011531935.1:p.Arg1522Gln
XM_011533634.1:c.4355G>A	XP_011531936.1:p.Arg1452Gln
XM_024453487.1:c.4355G>A	XP_024309255.1:p.Arg1452Gln
XM_024453488.1:c.4355G>A	XP_024309256.1:p.Arg1452Gln
XM_024453489.1:c.4355G>A	XP_024309257.1:p.Arg1452Gln
XR_001740131.2:n.4540G>A
XR_002959510.1:n.4416G>A
XR_002959511.1:n.4416G>A
XR_002959512.1:n.4416G>A
XR_002959513.1:n.4416G>A
XR_002959514.1:n.4416G>A
XR_002959515.1:n.4416G>A
XR_002959516.1:n.4416G>A
XR_002959517.1:n.4416G>A
XR_940418.1:n.4580G>A
XR_940419.1:n.4668G>A
XR_940420.1:n.4668G>A