Canonical Allele Identifier: CA2363692

Gene: SETD2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47123224C>T , CM000665.2:g.47123224C>T	GRCh38
NC_000003.11:g.47164714C>T , CM000665.1:g.47164714C>T	GRCh37
NC_000003.10:g.47139718C>T	NCBI36
NG_032091.1:g.45754G>A , LRG_775:g.45754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.1280G>A	ENSP00000491413.2:p.Arg427Lys
ENST00000685005.1:c.1313G>A	ENSP00000509568.1:p.Arg438Lys
ENST00000691544.1:c.72-25143G>A	ENSP00000510710.1:n.72-25143G>A
ENST00000409792.4:c.1412G>A MANE Select	ENSP00000386759.3:p.Arg471Lys
ENST00000330022.11:c.1027G>A
ENST00000409792.3:c.1412G>A	ENSP00000386759.3:p.Arg471Lys
ENST00000412450.1:c.1280G>A	ENSP00000416401.1:p.Arg427Lys
ENST00000431180.5:c.564G>A
ENST00000445387.5:c.312G>A
NM_014159.6:c.1412G>A , LRG_775t1:c.1412G>A	NP_054878.5:p.Arg471Lys
XM_011533631.1:c.1490G>A	XP_011531933.1:p.Arg497Lys
XM_011533632.1:c.1436G>A	XP_011531934.1:p.Arg479Lys
XM_011533633.1:c.1490G>A	XP_011531935.1:p.Arg497Lys
XM_011533634.1:c.1280G>A	XP_011531936.1:p.Arg427Lys
XR_940418.1:n.1505G>A
XR_940419.1:n.1593G>A
XR_940420.1:n.1593G>A
NM_001349370.1:c.1280G>A	NP_001336299.1:p.Arg427Lys
NR_146158.1:n.1465G>A
XM_011533632.3:c.1436G>A	XP_011531934.1:p.Arg479Lys
XM_024453487.1:c.1280G>A	XP_024309255.1:p.Arg427Lys
XM_024453488.1:c.1280G>A	XP_024309256.1:p.Arg427Lys
XM_024453489.1:c.1280G>A	XP_024309257.1:p.Arg427Lys
XR_001740131.2:n.1465G>A
XR_002959510.1:n.1341G>A
XR_002959511.1:n.1341G>A
XR_002959512.1:n.1341G>A
XR_002959513.1:n.1341G>A
XR_002959514.1:n.1341G>A
XR_002959515.1:n.1341G>A
XR_002959516.1:n.1341G>A
XR_002959517.1:n.1341G>A
NM_001349370.2:c.1280G>A	NP_001336299.1:p.Arg427Lys
NR_146158.2:n.1601G>A
NM_001349370.3:c.1280G>A	NP_001336299.1:p.Arg427Lys
NM_014159.7:c.1412G>A MANE Select	NP_054878.5:p.Arg471Lys
NR_146158.3:n.1601G>A