Canonical Allele Identifier: CA2362568

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47042635G>A , CM000665.2:g.47042635G>A	GRCh38
NC_000003.11:g.47084125G>A , CM000665.1:g.47084125G>A	GRCh37
NC_000003.10:g.47059129G>A	NCBI36
NG_032091.1:g.126343C>T , LRG_775:g.126343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.7032C>T	ENSP00000491413.2:p.Thr2344=
ENST00000685005.1:c.6930C>T	ENSP00000509568.1:p.Thr2310=
ENST00000685237.1:n.3973C>T
ENST00000685505.1:c.5488C>T
ENST00000686773.1:c.5327C>T
ENST00000686792.1:n.1386C>T
ENST00000686876.1:c.3880C>T
ENST00000687657.1:n.1383C>T
ENST00000688290.1:c.5003C>T
ENST00000690157.1:c.3517C>T
ENST00000690461.1:c.5328C>T	ENSP00000509352.1:p.Thr1776=
ENST00000691544.1:c.2220C>T	ENSP00000510710.1:p.Thr740=
ENST00000691902.1:c.2959C>T
ENST00000692362.1:n.2969C>T
ENST00000692883.1:c.5488C>T
ENST00000693321.1:c.5423C>T
ENST00000693738.1:n.2605C>T
ENST00000409792.4:c.7164C>T MANE Select	ENSP00000386759.3:p.Thr2388=
ENST00000330022.11:c.6984C>T
ENST00000409792.3:c.7164C>T	ENSP00000386759.3:p.Thr2388=
ENST00000431180.5:c.6360C>T
ENST00000445387.5:c.6140C>T
ENST00000479832.1:n.607C>T
NM_014159.6:c.7164C>T , LRG_775t1:c.7164C>T	NP_054878.5:p.Thr2388=
XM_011533631.1:c.7242C>T	XP_011531933.1:p.Thr2414=
XM_011533632.1:c.7188C>T	XP_011531934.1:p.Thr2396=
XM_011533633.1:c.7107C>T	XP_011531935.1:p.Thr2369=
XM_011533634.1:c.7032C>T	XP_011531936.1:p.Thr2344=
XR_940418.1:n.7257C>T
NM_001349370.1:c.7032C>T	NP_001336299.1:p.Thr2344=
NR_146158.1:n.7385C>T
XM_011533632.3:c.7188C>T	XP_011531934.1:p.Thr2396=
XM_024453487.1:c.6897C>T	XP_024309255.1:p.Thr2299=
XM_024453488.1:c.6732C>T	XP_024309256.1:p.Thr2244=
XR_001740131.2:n.7200C>T
XR_002959510.1:n.7093C>T
XR_002959511.1:n.7376C>T
XR_002959512.1:n.7476C>T
XR_002959513.1:n.7310C>T
XR_002959515.1:n.7341C>T
NM_001349370.2:c.7032C>T	NP_001336299.1:p.Thr2344=
NR_146158.2:n.7521C>T
NM_001349370.3:c.7032C>T	NP_001336299.1:p.Thr2344=
NM_014159.7:c.7164C>T MANE Select	NP_054878.5:p.Thr2388=
NR_146158.3:n.7521C>T