Canonical Allele Identifier: CA352526759

Gene: SETD2

Linked Data

• MyVariant Identifiers: chr3:g.47163773A>C (hg19) ; chr3:g.47122283A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122283A>C , CM000665.2:g.47122283A>C	GRCh38
NC_000003.11:g.47163773A>C , CM000665.1:g.47163773A>C	GRCh37
NC_000003.10:g.47138777A>C	NCBI36
NG_032091.1:g.46695T>G , LRG_775:g.46695T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2221T>G	ENSP00000491413.2:p.Cys741Gly
ENST00000685005.1:c.2254T>G	ENSP00000509568.1:p.Cys752Gly
ENST00000685399.1:c.233T>G
ENST00000685505.1:c.294T>G
ENST00000686773.1:c.233T>G
ENST00000688290.1:c.233T>G
ENST00000690461.1:c.517T>G	ENSP00000509352.1:p.Cys173Gly
ENST00000691544.1:c.72-24202T>G	ENSP00000510710.1:n.72-24202T>G
ENST00000692883.1:c.294T>G
ENST00000693321.1:c.233T>G
ENST00000409792.4:c.2353T>G MANE Select	ENSP00000386759.3:p.Cys785Gly
ENST00000330022.11:c.1968T>G
ENST00000409792.3:c.2353T>G	ENSP00000386759.3:p.Cys785Gly
ENST00000412450.1:c.2221T>G	ENSP00000416401.1:p.Cys741Gly
ENST00000431180.5:c.1505T>G
ENST00000445387.5:c.1253T>G
NM_014159.6:c.2353T>G , LRG_775t1:c.2353T>G	NP_054878.5:p.Cys785Gly
XM_011533631.1:c.2431T>G	XP_011531933.1:p.Cys811Gly
XM_011533632.1:c.2377T>G	XP_011531934.1:p.Cys793Gly
XM_011533633.1:c.2431T>G	XP_011531935.1:p.Cys811Gly
XM_011533634.1:c.2221T>G	XP_011531936.1:p.Cys741Gly
XR_940418.1:n.2446T>G
XR_940419.1:n.2534T>G
XR_940420.1:n.2534T>G
NM_001349370.1:c.2221T>G	NP_001336299.1:p.Cys741Gly
NR_146158.1:n.2406T>G
XM_011533632.3:c.2377T>G	XP_011531934.1:p.Cys793Gly
XM_024453487.1:c.2221T>G	XP_024309255.1:p.Cys741Gly
XM_024453488.1:c.2221T>G	XP_024309256.1:p.Cys741Gly
XM_024453489.1:c.2221T>G	XP_024309257.1:p.Cys741Gly
XR_001740131.2:n.2406T>G
XR_002959510.1:n.2282T>G
XR_002959511.1:n.2282T>G
XR_002959512.1:n.2282T>G
XR_002959513.1:n.2282T>G
XR_002959514.1:n.2282T>G
XR_002959515.1:n.2282T>G
XR_002959516.1:n.2282T>G
XR_002959517.1:n.2282T>G
NM_001349370.2:c.2221T>G	NP_001336299.1:p.Cys741Gly
NR_146158.2:n.2542T>G
NM_001349370.3:c.2221T>G	NP_001336299.1:p.Cys741Gly
NM_014159.7:c.2353T>G MANE Select	NP_054878.5:p.Cys785Gly
NR_146158.3:n.2542T>G