Canonical Allele Identifier: CA2362519
Community Standard Title: NM_014159.7(SETD2):c.7350+6T>C
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47037660A>G , CM000665.2:g.47037660A>G GRCh38
NC_000003.11:g.47079150A>G , CM000665.1:g.47079150A>G GRCh37
NC_000003.10:g.47054154A>G NCBI36
NG_032091.1:g.131318T>C , LRG_775:g.131318T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.7350+6T>C MANE Select NP_054878.5:n.7350+6T>C
ENST00000409792.4:c.7350+6T>C MANE Select ENSP00000386759.3:n.7350+6T>C
NM_001349370.1:c.7218+6T>C NP_001336299.1:n.7218+6T>C
NM_001349370.2:c.7218+6T>C NP_001336299.1:n.7218+6T>C
NM_001349370.3:c.7218+6T>C NP_001336299.1:n.7218+6T>C
NM_014159.6:c.7350+6T>C , LRG_775t1:c.7350+6T>C NP_054878.5:n.7350+6T>C
NR_146158.1:n.7571+6T>C
NR_146158.2:n.7707+6T>C
NR_146158.3:n.7707+6T>C
ENST00000330022.11:c.7170+6T>C
ENST00000409792.3:c.7350+6T>C ENSP00000386759.3:n.7350+6T>C
ENST00000431180.5:c.6546+6T>C
ENST00000445387.5:c.6326+6T>C
ENST00000638947.2:c.7218+6T>C ENSP00000491413.2:n.7218+6T>C
ENST00000685005.1:c.7116+6T>C ENSP00000509568.1:n.7116+6T>C
ENST00000685237.1:n.4159+6T>C
ENST00000685505.1:c.5674+6T>C
ENST00000686773.1:c.5513+6T>C
ENST00000686792.1:n.1572+6T>C
ENST00000686876.1:c.4066+6T>C
ENST00000687657.1:n.1569+6T>C
ENST00000688290.1:c.5189+6T>C
ENST00000690157.1:c.3703+6T>C
ENST00000690461.1:c.5638+6T>C ENSP00000509352.1:n.5638+6T>C
ENST00000691544.1:c.2406+6T>C ENSP00000510710.1:n.2406+6T>C
ENST00000691902.1:c.3145+6T>C
ENST00000692362.1:n.3279+6T>C
ENST00000692883.1:c.5674+6T>C
ENST00000693321.1:c.5609+6T>C
ENST00000693738.1:n.2791+6T>C
XM_011533631.1:c.7428+6T>C XP_011531933.1:n.7428+6T>C
XM_011533632.1:c.7374+6T>C XP_011531934.1:n.7374+6T>C
XM_011533632.3:c.7374+6T>C XP_011531934.1:n.7374+6T>C
XM_011533633.1:c.7293+6T>C XP_011531935.1:n.7293+6T>C
XM_011533634.1:c.7218+6T>C XP_011531936.1:n.7218+6T>C
XM_024453487.1:c.7083+6T>C XP_024309255.1:n.7083+6T>C
XM_024453488.1:c.6918+6T>C XP_024309256.1:n.6918+6T>C
XR_001740131.2:n.7386+6T>C
XR_002959510.1:n.7403+6T>C
XR_002959511.1:n.7562+6T>C
XR_002959512.1:n.7662+6T>C
XR_002959513.1:n.7496+6T>C
XR_002959515.1:n.7527+6T>C
XR_940418.1:n.7567+6T>C