Canonical Allele Identifier: CA2363691

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47123222G>A , CM000665.2:g.47123222G>A	GRCh38
NC_000003.11:g.47164712G>A , CM000665.1:g.47164712G>A	GRCh37
NC_000003.10:g.47139716G>A	NCBI36
NG_032091.1:g.45756C>T , LRG_775:g.45756C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.1414C>T MANE Select	NP_054878.5:p.Arg472Cys
ENST00000409792.4:c.1414C>T MANE Select	ENSP00000386759.3:p.Arg472Cys
NM_001349370.1:c.1282C>T	NP_001336299.1:p.Arg428Cys
NM_001349370.2:c.1282C>T	NP_001336299.1:p.Arg428Cys
NM_001349370.3:c.1282C>T	NP_001336299.1:p.Arg428Cys
NM_014159.6:c.1414C>T , LRG_775t1:c.1414C>T	NP_054878.5:p.Arg472Cys
NR_146158.1:n.1467C>T
NR_146158.2:n.1603C>T
NR_146158.3:n.1603C>T
ENST00000330022.11:c.1029C>T
ENST00000409792.3:c.1414C>T	ENSP00000386759.3:p.Arg472Cys
ENST00000412450.1:c.1282C>T	ENSP00000416401.1:p.Arg428Cys
ENST00000431180.5:c.566C>T
ENST00000445387.5:c.314C>T
ENST00000638947.2:c.1282C>T	ENSP00000491413.2:p.Arg428Cys
ENST00000685005.1:c.1315C>T	ENSP00000509568.1:p.Arg439Cys
ENST00000691544.1:c.72-25141C>T	ENSP00000510710.1:n.72-25141C>T
XM_011533631.1:c.1492C>T	XP_011531933.1:p.Arg498Cys
XM_011533632.1:c.1438C>T	XP_011531934.1:p.Arg480Cys
XM_011533632.3:c.1438C>T	XP_011531934.1:p.Arg480Cys
XM_011533633.1:c.1492C>T	XP_011531935.1:p.Arg498Cys
XM_011533634.1:c.1282C>T	XP_011531936.1:p.Arg428Cys
XM_024453487.1:c.1282C>T	XP_024309255.1:p.Arg428Cys
XM_024453488.1:c.1282C>T	XP_024309256.1:p.Arg428Cys
XM_024453489.1:c.1282C>T	XP_024309257.1:p.Arg428Cys
XR_001740131.2:n.1467C>T
XR_002959510.1:n.1343C>T
XR_002959511.1:n.1343C>T
XR_002959512.1:n.1343C>T
XR_002959513.1:n.1343C>T
XR_002959514.1:n.1343C>T
XR_002959515.1:n.1343C>T
XR_002959516.1:n.1343C>T
XR_002959517.1:n.1343C>T
XR_940418.1:n.1507C>T
XR_940419.1:n.1595C>T
XR_940420.1:n.1595C>T