Canonical Allele Identifier: CA2363005
Community Standard Title: NM_014159.7(SETD2):c.5016-15A>G
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47098096T>C , CM000665.2:g.47098096T>C GRCh38
NC_000003.11:g.47139586T>C , CM000665.1:g.47139586T>C GRCh37
NC_000003.10:g.47114590T>C NCBI36
NG_032091.1:g.70882A>G , LRG_775:g.70882A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.5016-15A>G MANE Select NP_054878.5:n.5016-15A>G
ENST00000409792.4:c.5016-15A>G MANE Select ENSP00000386759.3:n.5016-15A>G
NM_001349370.1:c.4884-15A>G NP_001336299.1:n.4884-15A>G
NM_001349370.2:c.4884-15A>G NP_001336299.1:n.4884-15A>G
NM_001349370.3:c.4884-15A>G NP_001336299.1:n.4884-15A>G
NM_014159.6:c.5016-15A>G , LRG_775t1:c.5016-15A>G NP_054878.5:n.5016-15A>G
NR_146158.1:n.5069-15A>G
NR_146158.2:n.5205-15A>G
NR_146158.3:n.5205-15A>G
ENST00000330022.11:c.4836-15A>G
ENST00000409792.3:c.5016-15A>G ENSP00000386759.3:n.5016-15A>G
ENST00000431180.5:c.4044-15A>G
ENST00000445387.5:c.3916-15A>G
ENST00000484689.1:n.356A>G
ENST00000638947.1:c.666-15A>G ENSP00000491413.1:n.666-15A>G
ENST00000638947.2:c.4884-15A>G ENSP00000491413.2:n.4884-15A>G
ENST00000685005.1:c.4917-15A>G ENSP00000509568.1:n.4917-15A>G
ENST00000685237.1:n.1845A>G
ENST00000685399.1:c.2896-15A>G
ENST00000685505.1:c.2957-15A>G
ENST00000686773.1:c.2896-15A>G
ENST00000686876.1:c.1732-15A>G
ENST00000688290.1:c.2896-15A>G
ENST00000690157.1:c.2032-15A>G
ENST00000690461.1:c.3180-15A>G ENSP00000509352.1:n.3180-15A>G
ENST00000691544.1:c.72-15A>G ENSP00000510710.1:n.72-15A>G
ENST00000691902.1:c.1855+7901A>G
ENST00000692362.1:n.821-15A>G
ENST00000692883.1:c.2957-15A>G
ENST00000693321.1:c.2896-15A>G
XM_011533631.1:c.5094-15A>G XP_011531933.1:n.5094-15A>G
XM_011533632.1:c.5040-15A>G XP_011531934.1:n.5040-15A>G
XM_011533632.3:c.5040-15A>G XP_011531934.1:n.5040-15A>G
XM_011533633.1:c.5094-15A>G XP_011531935.1:n.5094-15A>G
XM_011533634.1:c.4884-15A>G XP_011531936.1:n.4884-15A>G
XM_024453487.1:c.4884-15A>G XP_024309255.1:n.4884-15A>G
XM_024453488.1:c.4584-15A>G XP_024309256.1:n.4584-15A>G
XM_024453489.1:c.4786-15A>G XP_024309257.1:n.4786-15A>G
XR_001740131.2:n.4769-15A>G
XR_002959510.1:n.4945-15A>G
XR_002959511.1:n.4945-15A>G
XR_002959512.1:n.4945-15A>G
XR_002959513.1:n.4945-15A>G
XR_002959514.1:n.4945-15A>G
XR_002959515.1:n.4945-15A>G
XR_002959516.1:n.4847-15A>G
XR_002959517.1:n.4847-15A>G
XR_940418.1:n.5109-15A>G
XR_940419.1:n.5197-15A>G
XR_940420.1:n.5197-15A>G