Canonical Allele Identifier: CA352513306

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47101543C>G , CM000665.2:g.47101543C>G	GRCh38
NC_000003.11:g.47143033C>G , CM000665.1:g.47143033C>G	GRCh37
NC_000003.10:g.47118037C>G	NCBI36
NG_032091.1:g.67435G>C , LRG_775:g.67435G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.4930G>C MANE Select	NP_054878.5:p.Gly1644Arg
ENST00000409792.4:c.4930G>C MANE Select	ENSP00000386759.3:p.Gly1644Arg
NM_001349370.1:c.4798G>C	NP_001336299.1:p.Gly1600Arg
NM_001349370.2:c.4798G>C	NP_001336299.1:p.Gly1600Arg
NM_001349370.3:c.4798G>C	NP_001336299.1:p.Gly1600Arg
NM_014159.6:c.4930G>C , LRG_775t1:c.4930G>C	NP_054878.5:p.Gly1644Arg
NR_146158.1:n.4983G>C
NR_146158.2:n.5119G>C
NR_146158.3:n.5119G>C
ENST00000330022.11:c.4750G>C
ENST00000409792.3:c.4930G>C	ENSP00000386759.3:p.Gly1644Arg
ENST00000431180.5:c.3958G>C
ENST00000445387.5:c.3830G>C
ENST00000638947.1:c.580G>C	ENSP00000491413.1:p.Gly194Arg
ENST00000638947.2:c.4798G>C	ENSP00000491413.2:p.Gly1600Arg
ENST00000685005.1:c.4831G>C	ENSP00000509568.1:p.Gly1611Arg
ENST00000685399.1:c.2810G>C
ENST00000685505.1:c.2871G>C
ENST00000686773.1:c.2810G>C
ENST00000686876.1:c.1732-3462G>C
ENST00000688290.1:c.2810G>C
ENST00000690157.1:c.1946G>C
ENST00000690461.1:c.3094G>C	ENSP00000509352.1:p.Gly1032Arg
ENST00000691544.1:c.72-3462G>C	ENSP00000510710.1:n.72-3462G>C
ENST00000691902.1:c.1855+4454G>C
ENST00000692362.1:n.735G>C
ENST00000692883.1:c.2871G>C
ENST00000693321.1:c.2810G>C
XM_011533631.1:c.5008G>C	XP_011531933.1:p.Gly1670Arg
XM_011533632.1:c.4954G>C	XP_011531934.1:p.Gly1652Arg
XM_011533632.3:c.4954G>C	XP_011531934.1:p.Gly1652Arg
XM_011533633.1:c.5008G>C	XP_011531935.1:p.Gly1670Arg
XM_011533634.1:c.4798G>C	XP_011531936.1:p.Gly1600Arg
XM_024453487.1:c.4798G>C	XP_024309255.1:p.Gly1600Arg
XM_024453488.1:c.4584-3462G>C	XP_024309256.1:n.4584-3462G>C
XM_024453489.1:c.4785+1803G>C	XP_024309257.1:n.4785+1803G>C
XR_001740131.2:n.4769-3462G>C
XR_002959510.1:n.4859G>C
XR_002959511.1:n.4859G>C
XR_002959512.1:n.4859G>C
XR_002959513.1:n.4859G>C
XR_002959514.1:n.4859G>C
XR_002959515.1:n.4859G>C
XR_002959516.1:n.4846+1803G>C
XR_002959517.1:n.4846+1803G>C
XR_940418.1:n.5023G>C
XR_940419.1:n.5111G>C
XR_940420.1:n.5111G>C