Canonical Allele Identifier: CA352526475

Gene: SETD2

Linked Data

• MyVariant Identifiers: chr3:g.47163693A>C (hg19) ; chr3:g.47122203A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122203A>C , CM000665.2:g.47122203A>C	GRCh38
NC_000003.11:g.47163693A>C , CM000665.1:g.47163693A>C	GRCh37
NC_000003.10:g.47138697A>C	NCBI36
NG_032091.1:g.46775T>G , LRG_775:g.46775T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2301T>G	ENSP00000491413.2:p.Asn767Lys
ENST00000685005.1:c.2334T>G	ENSP00000509568.1:p.Asn778Lys
ENST00000685399.1:c.313T>G
ENST00000685505.1:c.374T>G
ENST00000686773.1:c.313T>G
ENST00000688290.1:c.313T>G
ENST00000690461.1:c.597T>G	ENSP00000509352.1:p.Asn199Lys
ENST00000691544.1:c.72-24122T>G	ENSP00000510710.1:n.72-24122T>G
ENST00000692883.1:c.374T>G
ENST00000693321.1:c.313T>G
ENST00000409792.4:c.2433T>G MANE Select	ENSP00000386759.3:p.Asn811Lys
ENST00000330022.11:c.2048T>G
ENST00000409792.3:c.2433T>G	ENSP00000386759.3:p.Asn811Lys
ENST00000412450.1:c.2301T>G	ENSP00000416401.1:p.Asn767Lys
ENST00000431180.5:c.1585T>G
ENST00000445387.5:c.1333T>G
NM_014159.6:c.2433T>G , LRG_775t1:c.2433T>G	NP_054878.5:p.Asn811Lys
XM_011533631.1:c.2511T>G	XP_011531933.1:p.Asn837Lys
XM_011533632.1:c.2457T>G	XP_011531934.1:p.Asn819Lys
XM_011533633.1:c.2511T>G	XP_011531935.1:p.Asn837Lys
XM_011533634.1:c.2301T>G	XP_011531936.1:p.Asn767Lys
XR_940418.1:n.2526T>G
XR_940419.1:n.2614T>G
XR_940420.1:n.2614T>G
NM_001349370.1:c.2301T>G	NP_001336299.1:p.Asn767Lys
NR_146158.1:n.2486T>G
XM_011533632.3:c.2457T>G	XP_011531934.1:p.Asn819Lys
XM_024453487.1:c.2301T>G	XP_024309255.1:p.Asn767Lys
XM_024453488.1:c.2301T>G	XP_024309256.1:p.Asn767Lys
XM_024453489.1:c.2301T>G	XP_024309257.1:p.Asn767Lys
XR_001740131.2:n.2486T>G
XR_002959510.1:n.2362T>G
XR_002959511.1:n.2362T>G
XR_002959512.1:n.2362T>G
XR_002959513.1:n.2362T>G
XR_002959514.1:n.2362T>G
XR_002959515.1:n.2362T>G
XR_002959516.1:n.2362T>G
XR_002959517.1:n.2362T>G
NM_001349370.2:c.2301T>G	NP_001336299.1:p.Asn767Lys
NR_146158.2:n.2622T>G
NM_001349370.3:c.2301T>G	NP_001336299.1:p.Asn767Lys
NM_014159.7:c.2433T>G MANE Select	NP_054878.5:p.Asn811Lys
NR_146158.3:n.2622T>G