Canonical Allele Identifier: CA1362418036
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47122253A= , CM000665.2:g.47122253A= GRCh38
NC_000003.11:g.47163743A= , CM000665.1:g.47163743A= GRCh37
NC_000003.10:g.47138747A= NCBI36
NG_032091.1:g.46725T= , LRG_775:g.46725T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000638947.2:c.2251T= ENSP00000491413.2:p.Cys751=
ENST00000685005.1:c.2284T= ENSP00000509568.1:p.Cys762=
ENST00000685399.1:c.263T=
ENST00000685505.1:c.324T=
ENST00000686773.1:c.263T=
ENST00000688290.1:c.263T=
ENST00000690461.1:c.547T= ENSP00000509352.1:p.Cys183=
ENST00000691544.1:c.72-24172T= ENSP00000510710.1:n.72-24172T=
ENST00000692883.1:c.324T=
ENST00000693321.1:c.263T=
ENST00000409792.4:c.2383T= MANE Select ENSP00000386759.3:p.Cys795=
ENST00000330022.11:c.1998T=
ENST00000409792.3:c.2383T= ENSP00000386759.3:p.Cys795=
ENST00000412450.1:c.2251T= ENSP00000416401.1:p.Cys751=
ENST00000431180.5:c.1535T=
ENST00000445387.5:c.1283T=
NM_014159.6:c.2383T= , LRG_775t1:c.2383T= NP_054878.5:p.Cys795=
XM_011533631.1:c.2461T= XP_011531933.1:p.Cys821=
XM_011533632.1:c.2407T= XP_011531934.1:p.Cys803=
XM_011533633.1:c.2461T= XP_011531935.1:p.Cys821=
XM_011533634.1:c.2251T= XP_011531936.1:p.Cys751=
XR_940418.1:n.2476T=
XR_940419.1:n.2564T=
XR_940420.1:n.2564T=
NM_001349370.1:c.2251T= NP_001336299.1:p.Cys751=
NR_146158.1:n.2436T=
XM_011533632.3:c.2407T= XP_011531934.1:p.Cys803=
XM_024453487.1:c.2251T= XP_024309255.1:p.Cys751=
XM_024453488.1:c.2251T= XP_024309256.1:p.Cys751=
XM_024453489.1:c.2251T= XP_024309257.1:p.Cys751=
XR_001740131.2:n.2436T=
XR_002959510.1:n.2312T=
XR_002959511.1:n.2312T=
XR_002959512.1:n.2312T=
XR_002959513.1:n.2312T=
XR_002959514.1:n.2312T=
XR_002959515.1:n.2312T=
XR_002959516.1:n.2312T=
XR_002959517.1:n.2312T=
NM_001349370.2:c.2251T= NP_001336299.1:p.Cys751=
NR_146158.2:n.2572T=
NM_001349370.3:c.2251T= NP_001336299.1:p.Cys751=
NM_014159.7:c.2383T= MANE Select NP_054878.5:p.Cys795=
NR_146158.3:n.2572T=