Canonical Allele Identifier: CA2362840

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47083908C>G , CM000665.2:g.47083908C>G	GRCh38
NC_000003.11:g.47125398C>G , CM000665.1:g.47125398C>G	GRCh37
NC_000003.10:g.47100402C>G	NCBI36
NG_032091.1:g.85070G>C , LRG_775:g.85070G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.5872G>C MANE Select	NP_054878.5:p.Ala1958Pro
ENST00000409792.4:c.5872G>C MANE Select	ENSP00000386759.3:p.Ala1958Pro
NM_001349370.1:c.5740G>C	NP_001336299.1:p.Ala1914Pro
NM_001349370.2:c.5740G>C	NP_001336299.1:p.Ala1914Pro
NM_001349370.3:c.5740G>C	NP_001336299.1:p.Ala1914Pro
NM_014159.6:c.5872G>C , LRG_775t1:c.5872G>C	NP_054878.5:p.Ala1958Pro
NR_146158.1:n.5925G>C
NR_146158.2:n.6061G>C
NR_146158.3:n.6061G>C
ENST00000330022.11:c.5692G>C
ENST00000409792.3:c.5872G>C	ENSP00000386759.3:p.Ala1958Pro
ENST00000431180.5:c.4900G>C
ENST00000445387.5:c.4772G>C
ENST00000492397.1:n.39G>C
ENST00000638947.1:c.1522G>C	ENSP00000491413.1:p.Ala508Pro
ENST00000638947.2:c.5740G>C	ENSP00000491413.2:p.Ala1914Pro
ENST00000685005.1:c.5638G>C	ENSP00000509568.1:p.Ala1880Pro
ENST00000685237.1:n.2581G>C
ENST00000685399.1:c.3752G>C
ENST00000685505.1:c.3813G>C
ENST00000686773.1:c.3752G>C
ENST00000686876.1:c.2588G>C
ENST00000688290.1:c.3752G>C
ENST00000690157.1:c.2413+2287G>C
ENST00000690461.1:c.4036G>C	ENSP00000509352.1:p.Ala1346Pro
ENST00000691544.1:c.928G>C	ENSP00000510710.1:p.Ala310Pro
ENST00000691902.1:c.1856-16790G>C
ENST00000692362.1:n.1677G>C
ENST00000692883.1:c.3813G>C
ENST00000693321.1:c.3752G>C
ENST00000693738.1:n.979G>C
XM_011533631.1:c.5950G>C	XP_011531933.1:p.Ala1984Pro
XM_011533632.1:c.5896G>C	XP_011531934.1:p.Ala1966Pro
XM_011533632.3:c.5896G>C	XP_011531934.1:p.Ala1966Pro
XM_011533633.1:c.5815G>C	XP_011531935.1:p.Ala1939Pro
XM_011533634.1:c.5740G>C	XP_011531936.1:p.Ala1914Pro
XM_024453487.1:c.5605G>C	XP_024309255.1:p.Ala1869Pro
XM_024453488.1:c.5440G>C	XP_024309256.1:p.Ala1814Pro
XR_001740131.2:n.5625G>C
XR_002959510.1:n.5801G>C
XR_002959511.1:n.5801G>C
XR_002959512.1:n.5801G>C
XR_002959513.1:n.5801G>C
XR_002959514.1:n.5801G>C
XR_002959515.1:n.5666G>C
XR_002959516.1:n.5703G>C
XR_002959517.1:n.5703G>C
XR_940418.1:n.5965G>C
XR_940419.1:n.6053G>C
XR_940420.1:n.6053G>C