Canonical Allele Identifier: CA352511122

Gene: SETD2

Linked Data

• ClinVar Variation Id: 1701854
• ClinVar RCV Id: RCV002277658
• dbSNP Id: rs1057523157
• MyVariant Identifiers: chr3:g.47129662G>C (hg19) ; chr3:g.47088172G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000638947.2:c.5086C>G	ENSP00000491413.2:p.Arg1696Gly
ENST00000685005.1:c.5044-1858C>G	ENSP00000509568.1:n.5044-1858C>G
ENST00000685237.1:n.1987-1858C>G
ENST00000685399.1:c.3098C>G
ENST00000685505.1:c.3159C>G
ENST00000686773.1:c.3098C>G
ENST00000686876.1:c.1934C>G
ENST00000688290.1:c.3098C>G
ENST00000690157.1:c.2234C>G
ENST00000690461.1:c.3382C>G	ENSP00000509352.1:p.Arg1128Gly
ENST00000691544.1:c.274C>G	ENSP00000510710.1:p.Arg92Gly
ENST00000691902.1:c.1855+17825C>G
ENST00000692362.1:n.1023C>G
ENST00000692883.1:c.3159C>G
ENST00000693321.1:c.3098C>G
ENST00000409792.4:c.5218C>G MANE Select	ENSP00000386759.3:p.Arg1740Gly
ENST00000638947.1:c.868C>G	ENSP00000491413.1:p.Arg290Gly
ENST00000330022.11:c.5038C>G
ENST00000409792.3:c.5218C>G	ENSP00000386759.3:p.Arg1740Gly
ENST00000431180.5:c.4246C>G
ENST00000445387.5:c.4118C>G
NM_014159.6:c.5218C>G , LRG_775t1:c.5218C>G	NP_054878.5:p.Arg1740Gly
XM_011533631.1:c.5296C>G	XP_011531933.1:p.Arg1766Gly
XM_011533632.1:c.5242C>G	XP_011531934.1:p.Arg1748Gly
XM_011533633.1:c.5221-1858C>G	XP_011531935.1:n.5221-1858C>G
XM_011533634.1:c.5086C>G	XP_011531936.1:p.Arg1696Gly
XR_940418.1:n.5311C>G
XR_940419.1:n.5399C>G
XR_940420.1:n.5399C>G
NM_001349370.1:c.5086C>G	NP_001336299.1:p.Arg1696Gly
NR_146158.1:n.5271C>G
XM_011533632.3:c.5242C>G	XP_011531934.1:p.Arg1748Gly
XM_024453487.1:c.5011-1858C>G	XP_024309255.1:n.5011-1858C>G
XM_024453488.1:c.4786C>G	XP_024309256.1:p.Arg1596Gly
XM_024453489.1:c.*11-1858C>G	XP_024309257.1:n.*11-1858C>G
XR_001740131.2:n.4971C>G
XR_002959510.1:n.5147C>G
XR_002959511.1:n.5147C>G
XR_002959512.1:n.5147C>G
XR_002959513.1:n.5147C>G
XR_002959514.1:n.5147C>G
XR_002959515.1:n.5072-1858C>G
XR_002959516.1:n.5049C>G
XR_002959517.1:n.5049C>G
NM_001349370.2:c.5086C>G	NP_001336299.1:p.Arg1696Gly
NR_146158.2:n.5407C>G
NM_001349370.3:c.5086C>G	NP_001336299.1:p.Arg1696Gly
NM_014159.7:c.5218C>G MANE Select	NP_054878.5:p.Arg1740Gly
NR_146158.3:n.5407C>G