Canonical Allele Identifier: CA162050

Gene: SETD2

Linked Data

• ClinVar Variation Id: 135219
• ClinVar RCV Id: RCV000122031 ; RCV000547348 ; RCV003436936 ; RCV004530037
• dbSNP Id: rs115569620
• ExAC: 3:47164351 G / T
• gnomAD v2: 3-47164351-G-T
• gnomAD v3: 3-47122861-G-T
• gnomAD v4: 3-47122861-G-T
• MyVariant Identifiers: chr3:g.47164351G>T (hg19) ; chr3:g.47122861G>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122861G>T , CM000665.2:g.47122861G>T	GRCh38
NC_000003.11:g.47164351G>T , CM000665.1:g.47164351G>T	GRCh37
NC_000003.10:g.47139355G>T	NCBI36
NG_032091.1:g.46117C>A , LRG_775:g.46117C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.1643C>A	ENSP00000491413.2:p.Thr548Lys
ENST00000685005.1:c.1676C>A	ENSP00000509568.1:p.Thr559Lys
ENST00000691544.1:c.72-24780C>A	ENSP00000510710.1:n.72-24780C>A
ENST00000409792.4:c.1775C>A MANE Select	ENSP00000386759.3:p.Thr592Lys
ENST00000330022.11:c.1390C>A
ENST00000409792.3:c.1775C>A	ENSP00000386759.3:p.Thr592Lys
ENST00000412450.1:c.1643C>A	ENSP00000416401.1:p.Thr548Lys
ENST00000431180.5:c.927C>A
ENST00000445387.5:c.675C>A
NM_014159.6:c.1775C>A , LRG_775t1:c.1775C>A	NP_054878.5:p.Thr592Lys
XM_011533631.1:c.1853C>A	XP_011531933.1:p.Thr618Lys
XM_011533632.1:c.1799C>A	XP_011531934.1:p.Thr600Lys
XM_011533633.1:c.1853C>A	XP_011531935.1:p.Thr618Lys
XM_011533634.1:c.1643C>A	XP_011531936.1:p.Thr548Lys
XR_940418.1:n.1868C>A
XR_940419.1:n.1956C>A
XR_940420.1:n.1956C>A
NM_001349370.1:c.1643C>A	NP_001336299.1:p.Thr548Lys
NR_146158.1:n.1828C>A
XM_011533632.3:c.1799C>A	XP_011531934.1:p.Thr600Lys
XM_024453487.1:c.1643C>A	XP_024309255.1:p.Thr548Lys
XM_024453488.1:c.1643C>A	XP_024309256.1:p.Thr548Lys
XM_024453489.1:c.1643C>A	XP_024309257.1:p.Thr548Lys
XR_001740131.2:n.1828C>A
XR_002959510.1:n.1704C>A
XR_002959511.1:n.1704C>A
XR_002959512.1:n.1704C>A
XR_002959513.1:n.1704C>A
XR_002959514.1:n.1704C>A
XR_002959515.1:n.1704C>A
XR_002959516.1:n.1704C>A
XR_002959517.1:n.1704C>A
NM_001349370.2:c.1643C>A	NP_001336299.1:p.Thr548Lys
NR_146158.2:n.1964C>A
NM_001349370.3:c.1643C>A	NP_001336299.1:p.Thr548Lys
NM_014159.7:c.1775C>A MANE Select	NP_054878.5:p.Thr592Lys
NR_146158.3:n.1964C>A