Canonical Allele Identifier: CA73809473

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47121549T>A , CM000665.2:g.47121549T>A	GRCh38
NC_000003.11:g.47163039T>A , CM000665.1:g.47163039T>A	GRCh37
NC_000003.10:g.47138043T>A	NCBI36
NG_032091.1:g.47429A>T , LRG_775:g.47429A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.3087A>T MANE Select	NP_054878.5:p.Glu1029Asp
ENST00000409792.4:c.3087A>T MANE Select	ENSP00000386759.3:p.Glu1029Asp
NM_001349370.1:c.2955A>T	NP_001336299.1:p.Glu985Asp
NM_001349370.2:c.2955A>T	NP_001336299.1:p.Glu985Asp
NM_001349370.3:c.2955A>T	NP_001336299.1:p.Glu985Asp
NM_014159.6:c.3087A>T , LRG_775t1:c.3087A>T	NP_054878.5:p.Glu1029Asp
NR_146158.1:n.3140A>T
NR_146158.2:n.3276A>T
NR_146158.3:n.3276A>T
ENST00000330022.11:c.2702A>T
ENST00000409792.3:c.3087A>T	ENSP00000386759.3:p.Glu1029Asp
ENST00000412450.1:c.2955A>T	ENSP00000416401.1:p.Glu985Asp
ENST00000431180.5:c.2239A>T
ENST00000445387.5:c.1987A>T
ENST00000638947.2:c.2955A>T	ENSP00000491413.2:p.Glu985Asp
ENST00000685005.1:c.2988A>T	ENSP00000509568.1:p.Glu996Asp
ENST00000685399.1:c.967A>T
ENST00000685505.1:c.1028A>T
ENST00000686773.1:c.967A>T
ENST00000686876.1:c.103A>T
ENST00000688290.1:c.967A>T
ENST00000690157.1:c.103A>T
ENST00000690461.1:c.1251A>T	ENSP00000509352.1:p.Glu417Asp
ENST00000691544.1:c.72-23468A>T	ENSP00000510710.1:n.72-23468A>T
ENST00000691902.1:c.103A>T
ENST00000692883.1:c.1028A>T
ENST00000693321.1:c.967A>T
XM_011533631.1:c.3165A>T	XP_011531933.1:p.Glu1055Asp
XM_011533632.1:c.3111A>T	XP_011531934.1:p.Glu1037Asp
XM_011533632.3:c.3111A>T	XP_011531934.1:p.Glu1037Asp
XM_011533633.1:c.3165A>T	XP_011531935.1:p.Glu1055Asp
XM_011533634.1:c.2955A>T	XP_011531936.1:p.Glu985Asp
XM_024453487.1:c.2955A>T	XP_024309255.1:p.Glu985Asp
XM_024453488.1:c.2955A>T	XP_024309256.1:p.Glu985Asp
XM_024453489.1:c.2955A>T	XP_024309257.1:p.Glu985Asp
XR_001740131.2:n.3140A>T
XR_002959510.1:n.3016A>T
XR_002959511.1:n.3016A>T
XR_002959512.1:n.3016A>T
XR_002959513.1:n.3016A>T
XR_002959514.1:n.3016A>T
XR_002959515.1:n.3016A>T
XR_002959516.1:n.3016A>T
XR_002959517.1:n.3016A>T
XR_940418.1:n.3180A>T
XR_940419.1:n.3268A>T
XR_940420.1:n.3268A>T