Canonical Allele Identifier: CA16604601
Gene: SETD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 388568
dbSNP Id: rs1057523157

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47088172G>A , CM000665.2:g.47088172G>A GRCh38
NC_000003.11:g.47129662G>A , CM000665.1:g.47129662G>A GRCh37
NC_000003.10:g.47104666G>A NCBI36
NG_032091.1:g.80806C>T , LRG_775:g.80806C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000638947.2:c.5086C>T ENSP00000491413.2:p.Arg1696Trp
ENST00000685005.1:c.5044-1858C>T ENSP00000509568.1:n.5044-1858C>T
ENST00000685237.1:n.1987-1858C>T
ENST00000685399.1:c.3098C>T
ENST00000685505.1:c.3159C>T
ENST00000686773.1:c.3098C>T
ENST00000686876.1:c.1934C>T
ENST00000688290.1:c.3098C>T
ENST00000690157.1:c.2234C>T
ENST00000690461.1:c.3382C>T ENSP00000509352.1:p.Arg1128Trp
ENST00000691544.1:c.274C>T ENSP00000510710.1:p.Arg92Trp
ENST00000691902.1:c.1855+17825C>T
ENST00000692362.1:n.1023C>T
ENST00000692883.1:c.3159C>T
ENST00000693321.1:c.3098C>T
ENST00000409792.4:c.5218C>T MANE Select ENSP00000386759.3:p.Arg1740Trp
ENST00000638947.1:c.868C>T ENSP00000491413.1:p.Arg290Trp
ENST00000330022.11:c.5038C>T
ENST00000409792.3:c.5218C>T ENSP00000386759.3:p.Arg1740Trp
ENST00000431180.5:c.4246C>T
ENST00000445387.5:c.4118C>T
NM_014159.6:c.5218C>T , LRG_775t1:c.5218C>T NP_054878.5:p.Arg1740Trp
XM_011533631.1:c.5296C>T XP_011531933.1:p.Arg1766Trp
XM_011533632.1:c.5242C>T XP_011531934.1:p.Arg1748Trp
XM_011533633.1:c.5221-1858C>T XP_011531935.1:n.5221-1858C>T
XM_011533634.1:c.5086C>T XP_011531936.1:p.Arg1696Trp
XR_940418.1:n.5311C>T
XR_940419.1:n.5399C>T
XR_940420.1:n.5399C>T
NM_001349370.1:c.5086C>T NP_001336299.1:p.Arg1696Trp
NR_146158.1:n.5271C>T
XM_011533632.3:c.5242C>T XP_011531934.1:p.Arg1748Trp
XM_024453487.1:c.5011-1858C>T XP_024309255.1:n.5011-1858C>T
XM_024453488.1:c.4786C>T XP_024309256.1:p.Arg1596Trp
XM_024453489.1:c.*11-1858C>T XP_024309257.1:n.*11-1858C>T
XR_001740131.2:n.4971C>T
XR_002959510.1:n.5147C>T
XR_002959511.1:n.5147C>T
XR_002959512.1:n.5147C>T
XR_002959513.1:n.5147C>T
XR_002959514.1:n.5147C>T
XR_002959515.1:n.5072-1858C>T
XR_002959516.1:n.5049C>T
XR_002959517.1:n.5049C>T
NM_001349370.2:c.5086C>T NP_001336299.1:p.Arg1696Trp
NR_146158.2:n.5407C>T
NM_001349370.3:c.5086C>T NP_001336299.1:p.Arg1696Trp
NM_014159.7:c.5218C>T MANE Select NP_054878.5:p.Arg1740Trp
NR_146158.3:n.5407C>T