Canonical Allele Identifier: CA2363675

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47123113C>A , CM000665.2:g.47123113C>A	GRCh38
NC_000003.11:g.47164603C>A , CM000665.1:g.47164603C>A	GRCh37
NC_000003.10:g.47139607C>A	NCBI36
NG_032091.1:g.45865G>T , LRG_775:g.45865G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.1523G>T MANE Select	NP_054878.5:p.Gly508Val
ENST00000409792.4:c.1523G>T MANE Select	ENSP00000386759.3:p.Gly508Val
NM_001349370.1:c.1391G>T	NP_001336299.1:p.Gly464Val
NM_001349370.2:c.1391G>T	NP_001336299.1:p.Gly464Val
NM_001349370.3:c.1391G>T	NP_001336299.1:p.Gly464Val
NM_014159.6:c.1523G>T , LRG_775t1:c.1523G>T	NP_054878.5:p.Gly508Val
NR_146158.1:n.1576G>T
NR_146158.2:n.1712G>T
NR_146158.3:n.1712G>T
ENST00000330022.11:c.1138G>T
ENST00000409792.3:c.1523G>T	ENSP00000386759.3:p.Gly508Val
ENST00000412450.1:c.1391G>T	ENSP00000416401.1:p.Gly464Val
ENST00000431180.5:c.675G>T
ENST00000445387.5:c.423G>T
ENST00000638947.2:c.1391G>T	ENSP00000491413.2:p.Gly464Val
ENST00000685005.1:c.1424G>T	ENSP00000509568.1:p.Gly475Val
ENST00000691544.1:c.72-25032G>T	ENSP00000510710.1:n.72-25032G>T
XM_011533631.1:c.1601G>T	XP_011531933.1:p.Gly534Val
XM_011533632.1:c.1547G>T	XP_011531934.1:p.Gly516Val
XM_011533632.3:c.1547G>T	XP_011531934.1:p.Gly516Val
XM_011533633.1:c.1601G>T	XP_011531935.1:p.Gly534Val
XM_011533634.1:c.1391G>T	XP_011531936.1:p.Gly464Val
XM_024453487.1:c.1391G>T	XP_024309255.1:p.Gly464Val
XM_024453488.1:c.1391G>T	XP_024309256.1:p.Gly464Val
XM_024453489.1:c.1391G>T	XP_024309257.1:p.Gly464Val
XR_001740131.2:n.1576G>T
XR_002959510.1:n.1452G>T
XR_002959511.1:n.1452G>T
XR_002959512.1:n.1452G>T
XR_002959513.1:n.1452G>T
XR_002959514.1:n.1452G>T
XR_002959515.1:n.1452G>T
XR_002959516.1:n.1452G>T
XR_002959517.1:n.1452G>T
XR_940418.1:n.1616G>T
XR_940419.1:n.1704G>T
XR_940420.1:n.1704G>T