Canonical Allele Identifier: CA352511856

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47097974C>G , CM000665.2:g.47097974C>G	GRCh38
NC_000003.11:g.47139464C>G , CM000665.1:g.47139464C>G	GRCh37
NC_000003.10:g.47114468C>G	NCBI36
NG_032091.1:g.71004G>C , LRG_775:g.71004G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.5123G>C MANE Select	NP_054878.5:p.Arg1708Pro
ENST00000409792.4:c.5123G>C MANE Select	ENSP00000386759.3:p.Arg1708Pro
NM_001349370.1:c.4991G>C	NP_001336299.1:p.Arg1664Pro
NM_001349370.2:c.4991G>C	NP_001336299.1:p.Arg1664Pro
NM_001349370.3:c.4991G>C	NP_001336299.1:p.Arg1664Pro
NM_014159.6:c.5123G>C , LRG_775t1:c.5123G>C	NP_054878.5:p.Arg1708Pro
NR_146158.1:n.5176G>C
NR_146158.2:n.5312G>C
NR_146158.3:n.5312G>C
ENST00000330022.11:c.4943G>C
ENST00000409792.3:c.5123G>C	ENSP00000386759.3:p.Arg1708Pro
ENST00000431180.5:c.4151G>C
ENST00000445387.5:c.4023G>C
ENST00000484689.1:n.478G>C
ENST00000638947.1:c.773G>C	ENSP00000491413.1:p.Arg258Pro
ENST00000638947.2:c.4991G>C	ENSP00000491413.2:p.Arg1664Pro
ENST00000685005.1:c.5024G>C	ENSP00000509568.1:p.Arg1675Pro
ENST00000685237.1:n.1967G>C
ENST00000685399.1:c.3003G>C
ENST00000685505.1:c.3064G>C
ENST00000686773.1:c.3003G>C
ENST00000686876.1:c.1839G>C
ENST00000688290.1:c.3003G>C
ENST00000690157.1:c.2139G>C
ENST00000690461.1:c.3287G>C	ENSP00000509352.1:p.Arg1096Pro
ENST00000691544.1:c.179G>C	ENSP00000510710.1:p.Arg60Pro
ENST00000691902.1:c.1855+8023G>C
ENST00000692362.1:n.928G>C
ENST00000692883.1:c.3064G>C
ENST00000693321.1:c.3003G>C
XM_011533631.1:c.5201G>C	XP_011531933.1:p.Arg1734Pro
XM_011533632.1:c.5147G>C	XP_011531934.1:p.Arg1716Pro
XM_011533632.3:c.5147G>C	XP_011531934.1:p.Arg1716Pro
XM_011533633.1:c.5201G>C	XP_011531935.1:p.Arg1734Pro
XM_011533634.1:c.4991G>C	XP_011531936.1:p.Arg1664Pro
XM_024453487.1:c.4991G>C	XP_024309255.1:p.Arg1664Pro
XM_024453488.1:c.4691G>C	XP_024309256.1:p.Arg1564Pro
XM_024453489.1:c.4893G>C	XP_024309257.1:p.Thr1631=
XR_001740131.2:n.4876G>C
XR_002959510.1:n.5052G>C
XR_002959511.1:n.5052G>C
XR_002959512.1:n.5052G>C
XR_002959513.1:n.5052G>C
XR_002959514.1:n.5052G>C
XR_002959515.1:n.5052G>C
XR_002959516.1:n.4954G>C
XR_002959517.1:n.4954G>C
XR_940418.1:n.5216G>C
XR_940419.1:n.5304G>C
XR_940420.1:n.5304G>C