Canonical Allele Identifier: CA2363029

Gene: SETD2

Linked Data

• ClinVar Variation Id: 436680
• ClinVar RCV Id: RCV000501522 ; RCV001597149
• dbSNP Id: rs61571386
• ExAC: 3:47143087 AGT / A
• gnomAD v2: 3-47143087-AGT-A
• gnomAD v3: 3-47101597-AGT-A
• gnomAD v4: 3-47101597-AGT-A
• COSMIC: COSN23185634 ; COSN24840606
• MyVariant Identifiers: chr3:g.47143092_47143093del (hg19) ; chr3:g.47143088_47143089del (hg19) ; chr3:g.47101602_47101603del (hg38) ; chr3:g.47101598_47101599del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47101633_47101634del , CM000665.2:g.47101633_47101634del	GRCh38
NC_000003.11:g.47143123_47143124del , CM000665.1:g.47143123_47143124del	GRCh37
NC_000003.10:g.47118127_47118128del	NCBI36
NG_032091.1:g.67379_67380del , LRG_775:g.67379_67380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.4786-44_4786-43del	ENSP00000491413.2:n.4786-44_4786-43del
ENST00000685005.1:c.4819-44_4819-43del	ENSP00000509568.1:n.4819-44_4819-43del
ENST00000685399.1:c.2798-44_2798-43del
ENST00000685505.1:c.2859-44_2859-43del
ENST00000686773.1:c.2798-44_2798-43del
ENST00000686876.1:c.1732-3518_1732-3517del
ENST00000688290.1:c.2798-44_2798-43del
ENST00000690157.1:c.1934-44_1934-43del
ENST00000690461.1:c.3082-44_3082-43del	ENSP00000509352.1:n.3082-44_3082-43del
ENST00000691544.1:c.72-3518_72-3517del	ENSP00000510710.1:n.72-3518_72-3517del
ENST00000691902.1:c.1855+4398_1855+4399del
ENST00000692362.1:n.723-44_723-43del
ENST00000692883.1:c.2859-44_2859-43del
ENST00000693321.1:c.2798-44_2798-43del
ENST00000409792.4:c.4918-44_4918-43del MANE Select	ENSP00000386759.3:n.4918-44_4918-43del
ENST00000638947.1:c.568-44_568-43del	ENSP00000491413.1:n.568-44_568-43del
ENST00000330022.11:c.4738-44_4738-43del
ENST00000409792.3:c.4918-44_4918-43del	ENSP00000386759.3:n.4918-44_4918-43del
ENST00000431180.5:c.3946-44_3946-43del
ENST00000445387.5:c.3818-44_3818-43del
NM_014159.6:c.4918-44_4918-43del , LRG_775t1:c.4918-44_4918-43del	NP_054878.5:n.4918-44_4918-43del
XM_011533631.1:c.4996-44_4996-43del	XP_011531933.1:n.4996-44_4996-43del
XM_011533632.1:c.4942-44_4942-43del	XP_011531934.1:n.4942-44_4942-43del
XM_011533633.1:c.4996-44_4996-43del	XP_011531935.1:n.4996-44_4996-43del
XM_011533634.1:c.4786-44_4786-43del	XP_011531936.1:n.4786-44_4786-43del
XR_940418.1:n.5011-44_5011-43del
XR_940419.1:n.5099-44_5099-43del
XR_940420.1:n.5099-44_5099-43del
NM_001349370.1:c.4786-44_4786-43del	NP_001336299.1:n.4786-44_4786-43del
NR_146158.1:n.4971-44_4971-43del
XM_011533632.3:c.4942-44_4942-43del	XP_011531934.1:n.4942-44_4942-43del
XM_024453487.1:c.4786-44_4786-43del	XP_024309255.1:n.4786-44_4786-43del
XM_024453488.1:c.4584-3518_4584-3517del	XP_024309256.1:n.4584-3518_4584-3517del
XM_024453489.1:c.4785+1747_4785+1748del	XP_024309257.1:n.4785+1747_4785+1748del
XR_001740131.2:n.4769-3518_4769-3517del
XR_002959510.1:n.4847-44_4847-43del
XR_002959511.1:n.4847-44_4847-43del
XR_002959512.1:n.4847-44_4847-43del
XR_002959513.1:n.4847-44_4847-43del
XR_002959514.1:n.4847-44_4847-43del
XR_002959515.1:n.4847-44_4847-43del
XR_002959516.1:n.4846+1747_4846+1748del
XR_002959517.1:n.4846+1747_4846+1748del
NM_001349370.2:c.4786-44_4786-43del	NP_001336299.1:n.4786-44_4786-43del
NR_146158.2:n.5107-44_5107-43del
NM_001349370.3:c.4786-44_4786-43del	NP_001336299.1:n.4786-44_4786-43del
NM_014159.7:c.4918-44_4918-43del MANE Select	NP_054878.5:n.4918-44_4918-43del
NR_146158.3:n.5107-44_5107-43del