Canonical Allele Identifier: CA1362401861

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47086326G>A , CM000665.2:g.47086326G>A	GRCh38
NC_000003.11:g.47127816G>A , CM000665.1:g.47127816G>A	GRCh37
NC_000003.10:g.47102820G>A	NCBI36
NG_032091.1:g.82652C>T , LRG_775:g.82652C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.5278-12C>T MANE Select	NP_054878.5:n.5278-12C>T
ENST00000409792.4:c.5278-12C>T MANE Select	ENSP00000386759.3:n.5278-12C>T
NM_001349370.1:c.5146-12C>T	NP_001336299.1:n.5146-12C>T
NM_001349370.2:c.5146-12C>T	NP_001336299.1:n.5146-12C>T
NM_001349370.3:c.5146-12C>T	NP_001336299.1:n.5146-12C>T
NM_014159.6:c.5278-12C>T , LRG_775t1:c.5278-12C>T	NP_054878.5:n.5278-12C>T
NR_146158.1:n.5331-12C>T
NR_146158.2:n.5467-12C>T
NR_146158.3:n.5467-12C>T
ENST00000330022.11:c.5098-12C>T
ENST00000409792.3:c.5278-12C>T	ENSP00000386759.3:n.5278-12C>T
ENST00000431180.5:c.4306-12C>T
ENST00000445387.5:c.4178-12C>T
ENST00000638947.1:c.928-12C>T	ENSP00000491413.1:n.928-12C>T
ENST00000638947.2:c.5146-12C>T	ENSP00000491413.2:n.5146-12C>T
ENST00000685005.1:c.5044-12C>T	ENSP00000509568.1:n.5044-12C>T
ENST00000685237.1:n.1987-12C>T
ENST00000685399.1:c.3158-12C>T
ENST00000685505.1:c.3219-12C>T
ENST00000686773.1:c.3158-12C>T
ENST00000686876.1:c.1994-12C>T
ENST00000688290.1:c.3158-12C>T
ENST00000690157.1:c.2294-12C>T
ENST00000690461.1:c.3442-12C>T	ENSP00000509352.1:n.3442-12C>T
ENST00000691544.1:c.334-12C>T	ENSP00000510710.1:n.334-12C>T
ENST00000691902.1:c.1856-19208C>T
ENST00000692362.1:n.1083-12C>T
ENST00000692883.1:c.3219-12C>T
ENST00000693321.1:c.3158-12C>T
ENST00000693738.1:n.373C>T
XM_011533631.1:c.5356-12C>T	XP_011531933.1:n.5356-12C>T
XM_011533632.1:c.5302-12C>T	XP_011531934.1:n.5302-12C>T
XM_011533632.3:c.5302-12C>T	XP_011531934.1:n.5302-12C>T
XM_011533633.1:c.5221-12C>T	XP_011531935.1:n.5221-12C>T
XM_011533634.1:c.5146-12C>T	XP_011531936.1:n.5146-12C>T
XM_024453487.1:c.5011-12C>T	XP_024309255.1:n.5011-12C>T
XM_024453488.1:c.4846-12C>T	XP_024309256.1:n.4846-12C>T
XM_024453489.1:c.*11-12C>T	XP_024309257.1:n.*11-12C>T
XR_001740131.2:n.5031-12C>T
XR_002959510.1:n.5207-12C>T
XR_002959511.1:n.5207-12C>T
XR_002959512.1:n.5207-12C>T
XR_002959513.1:n.5207-12C>T
XR_002959514.1:n.5207-12C>T
XR_002959515.1:n.5072-12C>T
XR_002959516.1:n.5109-12C>T
XR_002959517.1:n.5109-12C>T
XR_940418.1:n.5371-12C>T
XR_940419.1:n.5459-12C>T
XR_940420.1:n.5459-12C>T