Canonical Allele Identifier: CA352511119

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47088171C>T , CM000665.2:g.47088171C>T	GRCh38
NC_000003.11:g.47129661C>T , CM000665.1:g.47129661C>T	GRCh37
NC_000003.10:g.47104665C>T	NCBI36
NG_032091.1:g.80807G>A , LRG_775:g.80807G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.5219G>A MANE Select	NP_054878.5:p.Arg1740Gln
ENST00000409792.4:c.5219G>A MANE Select	ENSP00000386759.3:p.Arg1740Gln
NM_001349370.1:c.5087G>A	NP_001336299.1:p.Arg1696Gln
NM_001349370.2:c.5087G>A	NP_001336299.1:p.Arg1696Gln
NM_001349370.3:c.5087G>A	NP_001336299.1:p.Arg1696Gln
NM_014159.6:c.5219G>A , LRG_775t1:c.5219G>A	NP_054878.5:p.Arg1740Gln
NR_146158.1:n.5272G>A
NR_146158.2:n.5408G>A
NR_146158.3:n.5408G>A
ENST00000330022.11:c.5039G>A
ENST00000409792.3:c.5219G>A	ENSP00000386759.3:p.Arg1740Gln
ENST00000431180.5:c.4247G>A
ENST00000445387.5:c.4119G>A
ENST00000638947.1:c.869G>A	ENSP00000491413.1:p.Arg290Gln
ENST00000638947.2:c.5087G>A	ENSP00000491413.2:p.Arg1696Gln
ENST00000685005.1:c.5044-1857G>A	ENSP00000509568.1:n.5044-1857G>A
ENST00000685237.1:n.1987-1857G>A
ENST00000685399.1:c.3099G>A
ENST00000685505.1:c.3160G>A
ENST00000686773.1:c.3099G>A
ENST00000686876.1:c.1935G>A
ENST00000688290.1:c.3099G>A
ENST00000690157.1:c.2235G>A
ENST00000690461.1:c.3383G>A	ENSP00000509352.1:p.Arg1128Gln
ENST00000691544.1:c.275G>A	ENSP00000510710.1:p.Arg92Gln
ENST00000691902.1:c.1855+17826G>A
ENST00000692362.1:n.1024G>A
ENST00000692883.1:c.3160G>A
ENST00000693321.1:c.3099G>A
XM_011533631.1:c.5297G>A	XP_011531933.1:p.Arg1766Gln
XM_011533632.1:c.5243G>A	XP_011531934.1:p.Arg1748Gln
XM_011533632.3:c.5243G>A	XP_011531934.1:p.Arg1748Gln
XM_011533633.1:c.5221-1857G>A	XP_011531935.1:n.5221-1857G>A
XM_011533634.1:c.5087G>A	XP_011531936.1:p.Arg1696Gln
XM_024453487.1:c.5011-1857G>A	XP_024309255.1:n.5011-1857G>A
XM_024453488.1:c.4787G>A	XP_024309256.1:p.Arg1596Gln
XM_024453489.1:c.*11-1857G>A	XP_024309257.1:n.*11-1857G>A
XR_001740131.2:n.4972G>A
XR_002959510.1:n.5148G>A
XR_002959511.1:n.5148G>A
XR_002959512.1:n.5148G>A
XR_002959513.1:n.5148G>A
XR_002959514.1:n.5148G>A
XR_002959515.1:n.5072-1857G>A
XR_002959516.1:n.5050G>A
XR_002959517.1:n.5050G>A
XR_940418.1:n.5312G>A
XR_940419.1:n.5400G>A
XR_940420.1:n.5400G>A