Canonical Allele Identifier: CA2363001

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47098040C>T , CM000665.2:g.47098040C>T	GRCh38
NC_000003.11:g.47139530C>T , CM000665.1:g.47139530C>T	GRCh37
NC_000003.10:g.47114534C>T	NCBI36
NG_032091.1:g.70938G>A , LRG_775:g.70938G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.5057G>A MANE Select	NP_054878.5:p.Arg1686Gln
ENST00000409792.4:c.5057G>A MANE Select	ENSP00000386759.3:p.Arg1686Gln
NM_001349370.1:c.4925G>A	NP_001336299.1:p.Arg1642Gln
NM_001349370.2:c.4925G>A	NP_001336299.1:p.Arg1642Gln
NM_001349370.3:c.4925G>A	NP_001336299.1:p.Arg1642Gln
NM_014159.6:c.5057G>A , LRG_775t1:c.5057G>A	NP_054878.5:p.Arg1686Gln
NR_146158.1:n.5110G>A
NR_146158.2:n.5246G>A
NR_146158.3:n.5246G>A
ENST00000330022.11:c.4877G>A
ENST00000409792.3:c.5057G>A	ENSP00000386759.3:p.Arg1686Gln
ENST00000431180.5:c.4085G>A
ENST00000445387.5:c.3957G>A
ENST00000484689.1:n.412G>A
ENST00000638947.1:c.707G>A	ENSP00000491413.1:p.Arg236Gln
ENST00000638947.2:c.4925G>A	ENSP00000491413.2:p.Arg1642Gln
ENST00000685005.1:c.4958G>A	ENSP00000509568.1:p.Arg1653Gln
ENST00000685237.1:n.1901G>A
ENST00000685399.1:c.2937G>A
ENST00000685505.1:c.2998G>A
ENST00000686773.1:c.2937G>A
ENST00000686876.1:c.1773G>A
ENST00000688290.1:c.2937G>A
ENST00000690157.1:c.2073G>A
ENST00000690461.1:c.3221G>A	ENSP00000509352.1:p.Arg1074Gln
ENST00000691544.1:c.113G>A	ENSP00000510710.1:p.Arg38Gln
ENST00000691902.1:c.1855+7957G>A
ENST00000692362.1:n.862G>A
ENST00000692883.1:c.2998G>A
ENST00000693321.1:c.2937G>A
XM_011533631.1:c.5135G>A	XP_011531933.1:p.Arg1712Gln
XM_011533632.1:c.5081G>A	XP_011531934.1:p.Arg1694Gln
XM_011533632.3:c.5081G>A	XP_011531934.1:p.Arg1694Gln
XM_011533633.1:c.5135G>A	XP_011531935.1:p.Arg1712Gln
XM_011533634.1:c.4925G>A	XP_011531936.1:p.Arg1642Gln
XM_024453487.1:c.4925G>A	XP_024309255.1:p.Arg1642Gln
XM_024453488.1:c.4625G>A	XP_024309256.1:p.Arg1542Gln
XM_024453489.1:c.4827G>A	XP_024309257.1:p.Pro1609=
XR_001740131.2:n.4810G>A
XR_002959510.1:n.4986G>A
XR_002959511.1:n.4986G>A
XR_002959512.1:n.4986G>A
XR_002959513.1:n.4986G>A
XR_002959514.1:n.4986G>A
XR_002959515.1:n.4986G>A
XR_002959516.1:n.4888G>A
XR_002959517.1:n.4888G>A
XR_940418.1:n.5150G>A
XR_940419.1:n.5238G>A
XR_940420.1:n.5238G>A