Canonical Allele Identifier: CA352511859

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47097975G>A , CM000665.2:g.47097975G>A	GRCh38
NC_000003.11:g.47139465G>A , CM000665.1:g.47139465G>A	GRCh37
NC_000003.10:g.47114469G>A	NCBI36
NG_032091.1:g.71003C>T , LRG_775:g.71003C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.5122C>T MANE Select	NP_054878.5:p.Arg1708Ter
ENST00000409792.4:c.5122C>T MANE Select	ENSP00000386759.3:p.Arg1708Ter
NM_001349370.1:c.4990C>T	NP_001336299.1:p.Arg1664Ter
NM_001349370.2:c.4990C>T	NP_001336299.1:p.Arg1664Ter
NM_001349370.3:c.4990C>T	NP_001336299.1:p.Arg1664Ter
NM_014159.6:c.5122C>T , LRG_775t1:c.5122C>T	NP_054878.5:p.Arg1708Ter
NR_146158.1:n.5175C>T
NR_146158.2:n.5311C>T
NR_146158.3:n.5311C>T
ENST00000330022.11:c.4942C>T
ENST00000409792.3:c.5122C>T	ENSP00000386759.3:p.Arg1708Ter
ENST00000431180.5:c.4150C>T
ENST00000445387.5:c.4022C>T
ENST00000484689.1:n.477C>T
ENST00000638947.1:c.772C>T	ENSP00000491413.1:p.Arg258Ter
ENST00000638947.2:c.4990C>T	ENSP00000491413.2:p.Arg1664Ter
ENST00000685005.1:c.5023C>T	ENSP00000509568.1:p.Arg1675Ter
ENST00000685237.1:n.1966C>T
ENST00000685399.1:c.3002C>T
ENST00000685505.1:c.3063C>T
ENST00000686773.1:c.3002C>T
ENST00000686876.1:c.1838C>T
ENST00000688290.1:c.3002C>T
ENST00000690157.1:c.2138C>T
ENST00000690461.1:c.3286C>T	ENSP00000509352.1:p.Arg1096Ter
ENST00000691544.1:c.178C>T	ENSP00000510710.1:p.Arg60Ter
ENST00000691902.1:c.1855+8022C>T
ENST00000692362.1:n.927C>T
ENST00000692883.1:c.3063C>T
ENST00000693321.1:c.3002C>T
XM_011533631.1:c.5200C>T	XP_011531933.1:p.Arg1734Ter
XM_011533632.1:c.5146C>T	XP_011531934.1:p.Arg1716Ter
XM_011533632.3:c.5146C>T	XP_011531934.1:p.Arg1716Ter
XM_011533633.1:c.5200C>T	XP_011531935.1:p.Arg1734Ter
XM_011533634.1:c.4990C>T	XP_011531936.1:p.Arg1664Ter
XM_024453487.1:c.4990C>T	XP_024309255.1:p.Arg1664Ter
XM_024453488.1:c.4690C>T	XP_024309256.1:p.Arg1564Ter
XM_024453489.1:c.4892C>T	XP_024309257.1:p.Thr1631Met
XR_001740131.2:n.4875C>T
XR_002959510.1:n.5051C>T
XR_002959511.1:n.5051C>T
XR_002959512.1:n.5051C>T
XR_002959513.1:n.5051C>T
XR_002959514.1:n.5051C>T
XR_002959515.1:n.5051C>T
XR_002959516.1:n.4953C>T
XR_002959517.1:n.4953C>T
XR_940418.1:n.5215C>T
XR_940419.1:n.5303C>T
XR_940420.1:n.5303C>T