Canonical Allele Identifier: CA2363807

Gene: SETD2

Linked Data

• ClinVar Variation Id: 521678
• ClinVar RCV Id: RCV000623624 ; RCV000652616 ; RCV001193986 ; RCV003139952 ; RCV004533296
• dbSNP Id: rs541943893
• ExAC: 3:47205396 G / A
• gnomAD v2: 3-47205396-G-A
• gnomAD v3: 3-47163906-G-A
• gnomAD v4: 3-47163906-G-A
• MyVariant Identifiers: chr3:g.47205396G>A (hg19) ; chr3:g.47163906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47163906G>A , CM000665.2:g.47163906G>A	GRCh38
NC_000003.11:g.47205396G>A , CM000665.1:g.47205396G>A	GRCh37
NC_000003.10:g.47180400G>A	NCBI36
NG_032091.1:g.5072C>T , LRG_775:g.5072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691544.1:c.19C>T	ENSP00000510710.1:p.Gln7Ter
ENST00000409792.4:c.19C>T MANE Select	ENSP00000386759.3:p.Gln7Ter
ENST00000409792.3:c.19C>T	ENSP00000386759.3:p.Gln7Ter
NM_014159.6:c.19C>T , LRG_775t1:c.19C>T	NP_054878.5:p.Gln7Ter
XM_011533632.1:c.19C>T	XP_011531934.1:p.Gln7Ter
NM_001349370.1:c.-98C>T	NP_001336299.1:n.-98C>T
NR_146158.1:n.72C>T
XM_011533632.3:c.19C>T	XP_011531934.1:p.Gln7Ter
XR_001740131.2:n.72C>T
NM_001349370.2:c.-98C>T	NP_001336299.1:n.-98C>T
NR_146158.2:n.208C>T
NM_001349370.3:c.-98C>T	NP_001336299.1:n.-98C>T
NM_014159.7:c.19C>T MANE Select	NP_054878.5:p.Gln7Ter
NR_146158.3:n.208C>T