Canonical Allele Identifier: CA352530313

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47083751G>A , CM000665.2:g.47083751G>A	GRCh38
NC_000003.11:g.47125241G>A , CM000665.1:g.47125241G>A	GRCh37
NC_000003.10:g.47100245G>A	NCBI36
NG_032091.1:g.85227C>T , LRG_775:g.85227C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.6029C>T MANE Select	NP_054878.5:p.Thr2010Ile
ENST00000409792.4:c.6029C>T MANE Select	ENSP00000386759.3:p.Thr2010Ile
NM_001349370.1:c.5897C>T	NP_001336299.1:p.Thr1966Ile
NM_001349370.2:c.5897C>T	NP_001336299.1:p.Thr1966Ile
NM_001349370.3:c.5897C>T	NP_001336299.1:p.Thr1966Ile
NM_014159.6:c.6029C>T , LRG_775t1:c.6029C>T	NP_054878.5:p.Thr2010Ile
NR_146158.1:n.6082C>T
NR_146158.2:n.6218C>T
NR_146158.3:n.6218C>T
ENST00000330022.11:c.5849C>T
ENST00000409792.3:c.6029C>T	ENSP00000386759.3:p.Thr2010Ile
ENST00000431180.5:c.5057C>T
ENST00000445387.5:c.4929C>T
ENST00000492397.1:n.196C>T
ENST00000638947.1:c.1679C>T	ENSP00000491413.1:p.Thr560Ile
ENST00000638947.2:c.5897C>T	ENSP00000491413.2:p.Thr1966Ile
ENST00000685005.1:c.5795C>T	ENSP00000509568.1:p.Thr1932Ile
ENST00000685237.1:n.2738C>T
ENST00000685399.1:c.3909C>T
ENST00000685505.1:c.3970C>T
ENST00000686773.1:c.3909C>T
ENST00000686876.1:c.2745C>T
ENST00000688290.1:c.3909C>T
ENST00000690157.1:c.2413+2444C>T
ENST00000690461.1:c.4193C>T	ENSP00000509352.1:p.Thr1398Ile
ENST00000691544.1:c.1085C>T	ENSP00000510710.1:p.Thr362Ile
ENST00000691902.1:c.1856-16633C>T
ENST00000692362.1:n.1834C>T
ENST00000692883.1:c.3970C>T
ENST00000693321.1:c.3909C>T
ENST00000693738.1:n.1136C>T
XM_011533631.1:c.6107C>T	XP_011531933.1:p.Thr2036Ile
XM_011533632.1:c.6053C>T	XP_011531934.1:p.Thr2018Ile
XM_011533632.3:c.6053C>T	XP_011531934.1:p.Thr2018Ile
XM_011533633.1:c.5972C>T	XP_011531935.1:p.Thr1991Ile
XM_011533634.1:c.5897C>T	XP_011531936.1:p.Thr1966Ile
XM_024453487.1:c.5762C>T	XP_024309255.1:p.Thr1921Ile
XM_024453488.1:c.5597C>T	XP_024309256.1:p.Thr1866Ile
XR_001740131.2:n.5782C>T
XR_002959510.1:n.5958C>T
XR_002959511.1:n.5958C>T
XR_002959512.1:n.5958C>T
XR_002959513.1:n.5958C>T
XR_002959514.1:n.5958C>T
XR_002959515.1:n.5823C>T
XR_002959516.1:n.5860C>T
XR_002959517.1:n.5860C>T
XR_940418.1:n.6122C>T
XR_940419.1:n.6210C>T
XR_940420.1:n.6210C>T