Canonical Allele Identifier: CA352527443
Community Standard Title: NM_014159.7(SETD2):c.6069T>A (p.Tyr2023Ter)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47067110A>T , CM000665.2:g.47067110A>T GRCh38
NC_000003.11:g.47108600A>T , CM000665.1:g.47108600A>T GRCh37
NC_000003.10:g.47083604A>T NCBI36
NG_032091.1:g.101868T>A , LRG_775:g.101868T>A

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.6069T>A MANE Select NP_054878.5:p.Tyr2023Ter
ENST00000409792.4:c.6069T>A MANE Select ENSP00000386759.3:p.Tyr2023Ter
NM_001349370.1:c.5937T>A NP_001336299.1:p.Tyr1979Ter
NM_001349370.2:c.5937T>A NP_001336299.1:p.Tyr1979Ter
NM_001349370.3:c.5937T>A NP_001336299.1:p.Tyr1979Ter
NM_014159.6:c.6069T>A , LRG_775t1:c.6069T>A NP_054878.5:p.Tyr2023Ter
NR_146158.1:n.6290T>A
NR_146158.2:n.6426T>A
NR_146158.3:n.6426T>A
ENST00000330022.11:c.5889T>A
ENST00000409792.3:c.6069T>A ENSP00000386759.3:p.Tyr2023Ter
ENST00000431180.5:c.5265T>A
ENST00000445387.5:c.4969T>A
ENST00000492397.1:n.519T>A
ENST00000638947.1:c.1719T>A ENSP00000491413.1:p.Tyr573Ter
ENST00000638947.2:c.5937T>A ENSP00000491413.2:p.Tyr1979Ter
ENST00000685005.1:c.5835T>A ENSP00000509568.1:p.Tyr1945Ter
ENST00000685237.1:n.2878T>A
ENST00000685505.1:c.4393T>A
ENST00000686773.1:c.4232T>A
ENST00000686792.1:n.291T>A
ENST00000686876.1:c.2785T>A
ENST00000687657.1:n.288T>A
ENST00000688290.1:c.4092T>A
ENST00000690157.1:c.2422T>A
ENST00000690461.1:c.4233T>A ENSP00000509352.1:p.Tyr1411Ter
ENST00000691544.1:c.1125T>A ENSP00000510710.1:p.Tyr375Ter
ENST00000691902.1:c.1864T>A
ENST00000692362.1:n.1874T>A
ENST00000692883.1:c.4393T>A
ENST00000693321.1:c.4234T>A
ENST00000693738.1:n.1551-4764T>A
XM_011533631.1:c.6147T>A XP_011531933.1:p.Tyr2049Ter
XM_011533632.1:c.6093T>A XP_011531934.1:p.Tyr2031Ter
XM_011533632.3:c.6093T>A XP_011531934.1:p.Tyr2031Ter
XM_011533633.1:c.6012T>A XP_011531935.1:p.Tyr2004Ter
XM_011533634.1:c.5937T>A XP_011531936.1:p.Tyr1979Ter
XM_024453487.1:c.5802T>A XP_024309255.1:p.Tyr1934Ter
XM_024453488.1:c.5637T>A XP_024309256.1:p.Tyr1879Ter
XR_001740131.2:n.6105T>A
XR_002959510.1:n.5998T>A
XR_002959511.1:n.6281T>A
XR_002959512.1:n.6381T>A
XR_002959513.1:n.6215T>A
XR_002959514.1:n.5998T>A
XR_002959515.1:n.6246T>A
XR_002959516.1:n.5900T>A
XR_002959517.1:n.6068T>A
XR_940418.1:n.6162T>A
XR_940419.1:n.6533T>A
XR_940420.1:n.6418T>A