Canonical Allele Identifier: CA352521713
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47057455A>G , CM000665.2:g.47057455A>G GRCh38
NC_000003.11:g.47098945A>G , CM000665.1:g.47098945A>G GRCh37
NC_000003.10:g.47073949A>G NCBI36
NG_032091.1:g.111523T>C , LRG_775:g.111523T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.6329T>C MANE Select NP_054878.5:p.Ile2110Thr
ENST00000409792.4:c.6329T>C MANE Select ENSP00000386759.3:p.Ile2110Thr
NM_001349370.1:c.6197T>C NP_001336299.1:p.Ile2066Thr
NM_001349370.2:c.6197T>C NP_001336299.1:p.Ile2066Thr
NM_001349370.3:c.6197T>C NP_001336299.1:p.Ile2066Thr
NM_014159.6:c.6329T>C , LRG_775t1:c.6329T>C NP_054878.5:p.Ile2110Thr
NR_146158.1:n.6550T>C
NR_146158.2:n.6686T>C
NR_146158.3:n.6686T>C
ENST00000330022.11:c.6149T>C
ENST00000409792.3:c.6329T>C ENSP00000386759.3:p.Ile2110Thr
ENST00000431180.5:c.5525T>C
ENST00000445387.5:c.5305T>C
ENST00000638947.2:c.6197T>C ENSP00000491413.2:p.Ile2066Thr
ENST00000685005.1:c.6095T>C ENSP00000509568.1:p.Ile2032Thr
ENST00000685237.1:n.3138T>C
ENST00000685505.1:c.4653T>C
ENST00000686773.1:c.4492T>C
ENST00000686792.1:n.551T>C
ENST00000686876.1:c.3045T>C
ENST00000687657.1:n.548T>C
ENST00000688290.1:c.4168T>C
ENST00000690157.1:c.2682T>C
ENST00000690461.1:c.4493T>C ENSP00000509352.1:p.Ile1498Thr
ENST00000691544.1:c.1385T>C ENSP00000510710.1:p.Ile462Thr
ENST00000691902.1:c.2124T>C
ENST00000692362.1:n.2134T>C
ENST00000692883.1:c.4653T>C
ENST00000693321.1:c.4588T>C
ENST00000693738.1:n.1770T>C
XM_011533631.1:c.6407T>C XP_011531933.1:p.Ile2136Thr
XM_011533632.1:c.6353T>C XP_011531934.1:p.Ile2118Thr
XM_011533632.3:c.6353T>C XP_011531934.1:p.Ile2118Thr
XM_011533633.1:c.6272T>C XP_011531935.1:p.Ile2091Thr
XM_011533634.1:c.6197T>C XP_011531936.1:p.Ile2066Thr
XM_024453487.1:c.6062T>C XP_024309255.1:p.Ile2021Thr
XM_024453488.1:c.5897T>C XP_024309256.1:p.Ile1966Thr
XR_001740131.2:n.6365T>C
XR_002959510.1:n.6258T>C
XR_002959511.1:n.6541T>C
XR_002959512.1:n.6641T>C
XR_002959513.1:n.6475T>C
XR_002959515.1:n.6506T>C
XR_940418.1:n.6422T>C