Canonical Allele Identifier: CA73786624

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47042508C>T , CM000665.2:g.47042508C>T	GRCh38
NC_000003.11:g.47083998C>T , CM000665.1:g.47083998C>T	GRCh37
NC_000003.10:g.47059002C>T	NCBI36
NG_032091.1:g.126470G>A , LRG_775:g.126470G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.7238+53G>A MANE Select	NP_054878.5:n.7238+53G>A
ENST00000409792.4:c.7238+53G>A MANE Select	ENSP00000386759.3:n.7238+53G>A
NM_001349370.1:c.7106+53G>A	NP_001336299.1:n.7106+53G>A
NM_001349370.2:c.7106+53G>A	NP_001336299.1:n.7106+53G>A
NM_001349370.3:c.7106+53G>A	NP_001336299.1:n.7106+53G>A
NM_014159.6:c.7238+53G>A , LRG_775t1:c.7238+53G>A	NP_054878.5:n.7238+53G>A
NR_146158.1:n.7459+53G>A
NR_146158.2:n.7595+53G>A
NR_146158.3:n.7595+53G>A
ENST00000330022.11:c.7058+53G>A
ENST00000409792.3:c.7238+53G>A	ENSP00000386759.3:n.7238+53G>A
ENST00000431180.5:c.6434+53G>A
ENST00000445387.5:c.6214+53G>A
ENST00000479832.1:n.681+53G>A
ENST00000638947.2:c.7106+53G>A	ENSP00000491413.2:n.7106+53G>A
ENST00000685005.1:c.7004+53G>A	ENSP00000509568.1:n.7004+53G>A
ENST00000685237.1:n.4047+53G>A
ENST00000685505.1:c.5562+53G>A
ENST00000686773.1:c.5401+53G>A
ENST00000686792.1:n.1460+53G>A
ENST00000686876.1:c.3954+53G>A
ENST00000687657.1:n.1457+53G>A
ENST00000688290.1:c.5077+53G>A
ENST00000690157.1:c.3591+53G>A
ENST00000690461.1:c.5402+53G>A	ENSP00000509352.1:n.5402+53G>A
ENST00000691544.1:c.2294+53G>A	ENSP00000510710.1:n.2294+53G>A
ENST00000691902.1:c.3033+53G>A
ENST00000692362.1:n.3043+53G>A
ENST00000692883.1:c.5562+53G>A
ENST00000693321.1:c.5497+53G>A
ENST00000693738.1:n.2679+53G>A
XM_011533631.1:c.7316+53G>A	XP_011531933.1:n.7316+53G>A
XM_011533632.1:c.7262+53G>A	XP_011531934.1:n.7262+53G>A
XM_011533632.3:c.7262+53G>A	XP_011531934.1:n.7262+53G>A
XM_011533633.1:c.7181+53G>A	XP_011531935.1:n.7181+53G>A
XM_011533634.1:c.7106+53G>A	XP_011531936.1:n.7106+53G>A
XM_024453487.1:c.6971+53G>A	XP_024309255.1:n.6971+53G>A
XM_024453488.1:c.6806+53G>A	XP_024309256.1:n.6806+53G>A
XR_001740131.2:n.7274+53G>A
XR_002959510.1:n.7167+53G>A
XR_002959511.1:n.7450+53G>A
XR_002959512.1:n.7550+53G>A
XR_002959513.1:n.7384+53G>A
XR_002959515.1:n.7415+53G>A
XR_940418.1:n.7331+53G>A