Canonical Allele Identifier: CA352526444

Gene: SETD2

Linked Data

• COSMIC: COSM3824008 ; COSM3824009
• MyVariant Identifiers: chr3:g.47163682G>T (hg19) ; chr3:g.47122192G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122192G>T , CM000665.2:g.47122192G>T	GRCh38
NC_000003.11:g.47163682G>T , CM000665.1:g.47163682G>T	GRCh37
NC_000003.10:g.47138686G>T	NCBI36
NG_032091.1:g.46786C>A , LRG_775:g.46786C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2312C>A	ENSP00000491413.2:p.Ser771Ter
ENST00000685005.1:c.2345C>A	ENSP00000509568.1:p.Ser782Ter
ENST00000685399.1:c.324C>A
ENST00000685505.1:c.385C>A
ENST00000686773.1:c.324C>A
ENST00000688290.1:c.324C>A
ENST00000690461.1:c.608C>A	ENSP00000509352.1:p.Ser203Ter
ENST00000691544.1:c.72-24111C>A	ENSP00000510710.1:n.72-24111C>A
ENST00000692883.1:c.385C>A
ENST00000693321.1:c.324C>A
ENST00000409792.4:c.2444C>A MANE Select	ENSP00000386759.3:p.Ser815Ter
ENST00000330022.11:c.2059C>A
ENST00000409792.3:c.2444C>A	ENSP00000386759.3:p.Ser815Ter
ENST00000412450.1:c.2312C>A	ENSP00000416401.1:p.Ser771Ter
ENST00000431180.5:c.1596C>A
ENST00000445387.5:c.1344C>A
NM_014159.6:c.2444C>A , LRG_775t1:c.2444C>A	NP_054878.5:p.Ser815Ter
XM_011533631.1:c.2522C>A	XP_011531933.1:p.Ser841Ter
XM_011533632.1:c.2468C>A	XP_011531934.1:p.Ser823Ter
XM_011533633.1:c.2522C>A	XP_011531935.1:p.Ser841Ter
XM_011533634.1:c.2312C>A	XP_011531936.1:p.Ser771Ter
XR_940418.1:n.2537C>A
XR_940419.1:n.2625C>A
XR_940420.1:n.2625C>A
NM_001349370.1:c.2312C>A	NP_001336299.1:p.Ser771Ter
NR_146158.1:n.2497C>A
XM_011533632.3:c.2468C>A	XP_011531934.1:p.Ser823Ter
XM_024453487.1:c.2312C>A	XP_024309255.1:p.Ser771Ter
XM_024453488.1:c.2312C>A	XP_024309256.1:p.Ser771Ter
XM_024453489.1:c.2312C>A	XP_024309257.1:p.Ser771Ter
XR_001740131.2:n.2497C>A
XR_002959510.1:n.2373C>A
XR_002959511.1:n.2373C>A
XR_002959512.1:n.2373C>A
XR_002959513.1:n.2373C>A
XR_002959514.1:n.2373C>A
XR_002959515.1:n.2373C>A
XR_002959516.1:n.2373C>A
XR_002959517.1:n.2373C>A
NM_001349370.2:c.2312C>A	NP_001336299.1:p.Ser771Ter
NR_146158.2:n.2633C>A
NM_001349370.3:c.2312C>A	NP_001336299.1:p.Ser771Ter
NM_014159.7:c.2444C>A MANE Select	NP_054878.5:p.Ser815Ter
NR_146158.3:n.2633C>A