Canonical Allele Identifier: CA352534071

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47084019C>A , CM000665.2:g.47084019C>A	GRCh38
NC_000003.11:g.47125509C>A , CM000665.1:g.47125509C>A	GRCh37
NC_000003.10:g.47100513C>A	NCBI36
NG_032091.1:g.84959G>T , LRG_775:g.84959G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.5761G>T MANE Select	NP_054878.5:p.Glu1921Ter
ENST00000409792.4:c.5761G>T MANE Select	ENSP00000386759.3:p.Glu1921Ter
NM_001349370.1:c.5629G>T	NP_001336299.1:p.Glu1877Ter
NM_001349370.2:c.5629G>T	NP_001336299.1:p.Glu1877Ter
NM_001349370.3:c.5629G>T	NP_001336299.1:p.Glu1877Ter
NM_014159.6:c.5761G>T , LRG_775t1:c.5761G>T	NP_054878.5:p.Glu1921Ter
NR_146158.1:n.5814G>T
NR_146158.2:n.5950G>T
NR_146158.3:n.5950G>T
ENST00000330022.11:c.5581G>T
ENST00000409792.3:c.5761G>T	ENSP00000386759.3:p.Glu1921Ter
ENST00000431180.5:c.4789G>T
ENST00000445387.5:c.4661G>T
ENST00000638947.1:c.1411G>T	ENSP00000491413.1:p.Glu471Ter
ENST00000638947.2:c.5629G>T	ENSP00000491413.2:p.Glu1877Ter
ENST00000685005.1:c.5527G>T	ENSP00000509568.1:p.Glu1843Ter
ENST00000685237.1:n.2470G>T
ENST00000685399.1:c.3641G>T
ENST00000685505.1:c.3702G>T
ENST00000686773.1:c.3641G>T
ENST00000686876.1:c.2477G>T
ENST00000688290.1:c.3641G>T
ENST00000690157.1:c.2413+2176G>T
ENST00000690461.1:c.3925G>T	ENSP00000509352.1:p.Glu1309Ter
ENST00000691544.1:c.817G>T	ENSP00000510710.1:p.Glu273Ter
ENST00000691902.1:c.1856-16901G>T
ENST00000692362.1:n.1566G>T
ENST00000692883.1:c.3702G>T
ENST00000693321.1:c.3641G>T
ENST00000693738.1:n.868G>T
XM_011533631.1:c.5839G>T	XP_011531933.1:p.Glu1947Ter
XM_011533632.1:c.5785G>T	XP_011531934.1:p.Glu1929Ter
XM_011533632.3:c.5785G>T	XP_011531934.1:p.Glu1929Ter
XM_011533633.1:c.5704G>T	XP_011531935.1:p.Glu1902Ter
XM_011533634.1:c.5629G>T	XP_011531936.1:p.Glu1877Ter
XM_024453487.1:c.5494G>T	XP_024309255.1:p.Glu1832Ter
XM_024453488.1:c.5329G>T	XP_024309256.1:p.Glu1777Ter
XR_001740131.2:n.5514G>T
XR_002959510.1:n.5690G>T
XR_002959511.1:n.5690G>T
XR_002959512.1:n.5690G>T
XR_002959513.1:n.5690G>T
XR_002959514.1:n.5690G>T
XR_002959515.1:n.5555G>T
XR_002959516.1:n.5592G>T
XR_002959517.1:n.5592G>T
XR_940418.1:n.5854G>T
XR_940419.1:n.5942G>T
XR_940420.1:n.5942G>T