Canonical Allele Identifier: CA352517540

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47120261G>A , CM000665.2:g.47120261G>A	GRCh38
NC_000003.11:g.47161751G>A , CM000665.1:g.47161751G>A	GRCh37
NC_000003.10:g.47136755G>A	NCBI36
NG_032091.1:g.48717C>T , LRG_775:g.48717C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.4375C>T MANE Select	NP_054878.5:p.Arg1459Ter
ENST00000409792.4:c.4375C>T MANE Select	ENSP00000386759.3:p.Arg1459Ter
NM_001349370.1:c.4243C>T	NP_001336299.1:p.Arg1415Ter
NM_001349370.2:c.4243C>T	NP_001336299.1:p.Arg1415Ter
NM_001349370.3:c.4243C>T	NP_001336299.1:p.Arg1415Ter
NM_014159.6:c.4375C>T , LRG_775t1:c.4375C>T	NP_054878.5:p.Arg1459Ter
NR_146158.1:n.4428C>T
NR_146158.2:n.4564C>T
NR_146158.3:n.4564C>T
ENST00000330022.11:c.3990C>T
ENST00000409792.3:c.4375C>T	ENSP00000386759.3:p.Arg1459Ter
ENST00000431180.5:c.3527C>T
ENST00000445387.5:c.3275C>T
ENST00000638947.1:c.25C>T	ENSP00000491413.1:p.Arg9Ter
ENST00000638947.2:c.4243C>T	ENSP00000491413.2:p.Arg1415Ter
ENST00000685005.1:c.4276C>T	ENSP00000509568.1:p.Arg1426Ter
ENST00000685399.1:c.2255C>T
ENST00000685505.1:c.2316C>T
ENST00000686773.1:c.2255C>T
ENST00000686876.1:c.1391C>T
ENST00000688290.1:c.2255C>T
ENST00000690157.1:c.1391C>T
ENST00000690461.1:c.2539C>T	ENSP00000509352.1:p.Arg847Ter
ENST00000691544.1:c.72-22180C>T	ENSP00000510710.1:n.72-22180C>T
ENST00000691902.1:c.1391C>T
ENST00000692883.1:c.2316C>T
ENST00000693321.1:c.2255C>T
XM_011533631.1:c.4453C>T	XP_011531933.1:p.Arg1485Ter
XM_011533632.1:c.4399C>T	XP_011531934.1:p.Arg1467Ter
XM_011533632.3:c.4399C>T	XP_011531934.1:p.Arg1467Ter
XM_011533633.1:c.4453C>T	XP_011531935.1:p.Arg1485Ter
XM_011533634.1:c.4243C>T	XP_011531936.1:p.Arg1415Ter
XM_024453487.1:c.4243C>T	XP_024309255.1:p.Arg1415Ter
XM_024453488.1:c.4243C>T	XP_024309256.1:p.Arg1415Ter
XM_024453489.1:c.4243C>T	XP_024309257.1:p.Arg1415Ter
XR_001740131.2:n.4428C>T
XR_002959510.1:n.4304C>T
XR_002959511.1:n.4304C>T
XR_002959512.1:n.4304C>T
XR_002959513.1:n.4304C>T
XR_002959514.1:n.4304C>T
XR_002959515.1:n.4304C>T
XR_002959516.1:n.4304C>T
XR_002959517.1:n.4304C>T
XR_940418.1:n.4468C>T
XR_940419.1:n.4556C>T
XR_940420.1:n.4556C>T