Canonical Allele Identifier: CA1362417973

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122188A= , CM000665.2:g.47122188A=	GRCh38
NC_000003.11:g.47163678A= , CM000665.1:g.47163678A=	GRCh37
NC_000003.10:g.47138682A=	NCBI36
NG_032091.1:g.46790T= , LRG_775:g.46790T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2316T=	ENSP00000491413.2:p.Val772=
ENST00000685005.1:c.2349T=	ENSP00000509568.1:p.Val783=
ENST00000685399.1:c.328T=
ENST00000685505.1:c.389T=
ENST00000686773.1:c.328T=
ENST00000688290.1:c.328T=
ENST00000690461.1:c.612T=	ENSP00000509352.1:p.Val204=
ENST00000691544.1:c.72-24107T=	ENSP00000510710.1:n.72-24107T=
ENST00000692883.1:c.389T=
ENST00000693321.1:c.328T=
ENST00000409792.4:c.2448T= MANE Select	ENSP00000386759.3:p.Val816=
ENST00000330022.11:c.2063T=
ENST00000409792.3:c.2448T=	ENSP00000386759.3:p.Val816=
ENST00000412450.1:c.2316T=	ENSP00000416401.1:p.Val772=
ENST00000431180.5:c.1600T=
ENST00000445387.5:c.1348T=
NM_014159.6:c.2448T= , LRG_775t1:c.2448T=	NP_054878.5:p.Val816=
XM_011533631.1:c.2526T=	XP_011531933.1:p.Val842=
XM_011533632.1:c.2472T=	XP_011531934.1:p.Val824=
XM_011533633.1:c.2526T=	XP_011531935.1:p.Val842=
XM_011533634.1:c.2316T=	XP_011531936.1:p.Val772=
XR_940418.1:n.2541T=
XR_940419.1:n.2629T=
XR_940420.1:n.2629T=
NM_001349370.1:c.2316T=	NP_001336299.1:p.Val772=
NR_146158.1:n.2501T=
XM_011533632.3:c.2472T=	XP_011531934.1:p.Val824=
XM_024453487.1:c.2316T=	XP_024309255.1:p.Val772=
XM_024453488.1:c.2316T=	XP_024309256.1:p.Val772=
XM_024453489.1:c.2316T=	XP_024309257.1:p.Val772=
XR_001740131.2:n.2501T=
XR_002959510.1:n.2377T=
XR_002959511.1:n.2377T=
XR_002959512.1:n.2377T=
XR_002959513.1:n.2377T=
XR_002959514.1:n.2377T=
XR_002959515.1:n.2377T=
XR_002959516.1:n.2377T=
XR_002959517.1:n.2377T=
NM_001349370.2:c.2316T=	NP_001336299.1:p.Val772=
NR_146158.2:n.2637T=
NM_001349370.3:c.2316T=	NP_001336299.1:p.Val772=
NM_014159.7:c.2448T= MANE Select	NP_054878.5:p.Val816=
NR_146158.3:n.2637T=