Canonical Allele Identifier: CA2363703

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47123432G>A , CM000665.2:g.47123432G>A	GRCh38
NC_000003.11:g.47164922G>A , CM000665.1:g.47164922G>A	GRCh37
NC_000003.10:g.47139926G>A	NCBI36
NG_032091.1:g.45546C>T , LRG_775:g.45546C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.1204C>T MANE Select	NP_054878.5:p.Arg402Trp
ENST00000409792.4:c.1204C>T MANE Select	ENSP00000386759.3:p.Arg402Trp
NM_001349370.1:c.1072C>T	NP_001336299.1:p.Arg358Trp
NM_001349370.2:c.1072C>T	NP_001336299.1:p.Arg358Trp
NM_001349370.3:c.1072C>T	NP_001336299.1:p.Arg358Trp
NM_014159.6:c.1204C>T , LRG_775t1:c.1204C>T	NP_054878.5:p.Arg402Trp
NR_146158.1:n.1257C>T
NR_146158.2:n.1393C>T
NR_146158.3:n.1393C>T
ENST00000330022.11:c.819C>T
ENST00000409792.3:c.1204C>T	ENSP00000386759.3:p.Arg402Trp
ENST00000412450.1:c.1072C>T	ENSP00000416401.1:p.Arg358Trp
ENST00000431180.5:c.356C>T
ENST00000445387.5:c.104C>T
ENST00000638947.2:c.1072C>T	ENSP00000491413.2:p.Arg358Trp
ENST00000685005.1:c.1105C>T	ENSP00000509568.1:p.Arg369Trp
ENST00000691544.1:c.72-25351C>T	ENSP00000510710.1:n.72-25351C>T
XM_011533631.1:c.1282C>T	XP_011531933.1:p.Arg428Trp
XM_011533632.1:c.1228C>T	XP_011531934.1:p.Arg410Trp
XM_011533632.3:c.1228C>T	XP_011531934.1:p.Arg410Trp
XM_011533633.1:c.1282C>T	XP_011531935.1:p.Arg428Trp
XM_011533634.1:c.1072C>T	XP_011531936.1:p.Arg358Trp
XM_024453487.1:c.1072C>T	XP_024309255.1:p.Arg358Trp
XM_024453488.1:c.1072C>T	XP_024309256.1:p.Arg358Trp
XM_024453489.1:c.1072C>T	XP_024309257.1:p.Arg358Trp
XR_001740131.2:n.1257C>T
XR_002959510.1:n.1133C>T
XR_002959511.1:n.1133C>T
XR_002959512.1:n.1133C>T
XR_002959513.1:n.1133C>T
XR_002959514.1:n.1133C>T
XR_002959515.1:n.1133C>T
XR_002959516.1:n.1133C>T
XR_002959517.1:n.1133C>T
XR_940418.1:n.1297C>T
XR_940419.1:n.1385C>T
XR_940420.1:n.1385C>T