Canonical Allele Identifier: CA16617975
Gene: SETD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 420862
ClinVar RCV Id: RCV000478163
dbSNP Id: rs1064794751
MyVariant Identifiers: chr3:g.47144906T>A (hg19) chr3:g.47103416T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47103416T>A , CM000665.2:g.47103416T>A GRCh38
NC_000003.11:g.47144906T>A , CM000665.1:g.47144906T>A GRCh37
NC_000003.10:g.47119910T>A NCBI36
NG_032091.1:g.65562A>T , LRG_775:g.65562A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000638947.2:c.4715A>T ENSP00000491413.2:p.Asp1572Val
ENST00000685005.1:c.4748A>T ENSP00000509568.1:p.Asp1583Val
ENST00000685399.1:c.2727A>T
ENST00000685505.1:c.2788A>T
ENST00000686773.1:c.2727A>T
ENST00000686876.1:c.1732-5335A>T
ENST00000688290.1:c.2727A>T
ENST00000690157.1:c.1863A>T
ENST00000690461.1:c.3011A>T ENSP00000509352.1:p.Asp1004Val
ENST00000691544.1:c.72-5335A>T ENSP00000510710.1:n.72-5335A>T
ENST00000691902.1:c.1855+2581A>T
ENST00000692362.1:n.652A>T
ENST00000692883.1:c.2788A>T
ENST00000693321.1:c.2727A>T
ENST00000409792.4:c.4847A>T MANE Select ENSP00000386759.3:p.Asp1616Val
ENST00000638947.1:c.497A>T ENSP00000491413.1:p.Asp166Val
ENST00000330022.11:c.4667A>T
ENST00000409792.3:c.4847A>T ENSP00000386759.3:p.Asp1616Val
ENST00000431180.5:c.3875A>T
ENST00000445387.5:c.3747A>T
NM_014159.6:c.4847A>T , LRG_775t1:c.4847A>T NP_054878.5:p.Asp1616Val
XM_011533631.1:c.4925A>T XP_011531933.1:p.Asp1642Val
XM_011533632.1:c.4871A>T XP_011531934.1:p.Asp1624Val
XM_011533633.1:c.4925A>T XP_011531935.1:p.Asp1642Val
XM_011533634.1:c.4715A>T XP_011531936.1:p.Asp1572Val
XR_940418.1:n.4940A>T
XR_940419.1:n.5028A>T
XR_940420.1:n.5028A>T
NM_001349370.1:c.4715A>T NP_001336299.1:p.Asp1572Val
NR_146158.1:n.4900A>T
XM_011533632.3:c.4871A>T XP_011531934.1:p.Asp1624Val
XM_024453487.1:c.4715A>T XP_024309255.1:p.Asp1572Val
XM_024453488.1:c.4584-5335A>T XP_024309256.1:n.4584-5335A>T
XM_024453489.1:c.4715A>T XP_024309257.1:p.Asp1572Val
XR_001740131.2:n.4769-5335A>T
XR_002959510.1:n.4776A>T
XR_002959511.1:n.4776A>T
XR_002959512.1:n.4776A>T
XR_002959513.1:n.4776A>T
XR_002959514.1:n.4776A>T
XR_002959515.1:n.4776A>T
XR_002959516.1:n.4776A>T
XR_002959517.1:n.4776A>T
NM_001349370.2:c.4715A>T NP_001336299.1:p.Asp1572Val
NR_146158.2:n.5036A>T
NM_001349370.3:c.4715A>T NP_001336299.1:p.Asp1572Val
NM_014159.7:c.4847A>T MANE Select NP_054878.5:p.Asp1616Val
NR_146158.3:n.5036A>T
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