Canonical Allele Identifier: CA352515664
Community Standard Title: NM_014159.7(SETD2):c.7001A>G (p.Gln2334Arg)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47046584T>C , CM000665.2:g.47046584T>C GRCh38
NC_000003.11:g.47088074T>C , CM000665.1:g.47088074T>C GRCh37
NC_000003.10:g.47063078T>C NCBI36
NG_032091.1:g.122394A>G , LRG_775:g.122394A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.7001A>G MANE Select NP_054878.5:p.Gln2334Arg
ENST00000409792.4:c.7001A>G MANE Select ENSP00000386759.3:p.Gln2334Arg
NM_001349370.1:c.6869A>G NP_001336299.1:p.Gln2290Arg
NM_001349370.2:c.6869A>G NP_001336299.1:p.Gln2290Arg
NM_001349370.3:c.6869A>G NP_001336299.1:p.Gln2290Arg
NM_014159.6:c.7001A>G , LRG_775t1:c.7001A>G NP_054878.5:p.Gln2334Arg
NR_146158.1:n.7222A>G
NR_146158.2:n.7358A>G
NR_146158.3:n.7358A>G
ENST00000330022.11:c.6821A>G
ENST00000409792.3:c.7001A>G ENSP00000386759.3:p.Gln2334Arg
ENST00000431180.5:c.6197A>G
ENST00000445387.5:c.5977A>G
ENST00000479832.1:n.444A>G
ENST00000638947.2:c.6869A>G ENSP00000491413.2:p.Gln2290Arg
ENST00000685005.1:c.6767A>G ENSP00000509568.1:p.Gln2256Arg
ENST00000685237.1:n.3810A>G
ENST00000685505.1:c.5325A>G
ENST00000686773.1:c.5164A>G
ENST00000686792.1:n.1223A>G
ENST00000686876.1:c.3717A>G
ENST00000687657.1:n.1220A>G
ENST00000688290.1:c.4840A>G
ENST00000690157.1:c.3354A>G
ENST00000690461.1:c.5165A>G ENSP00000509352.1:p.Gln1722Arg
ENST00000691544.1:c.2057A>G ENSP00000510710.1:p.Gln686Arg
ENST00000691902.1:c.2796A>G
ENST00000692362.1:n.2806A>G
ENST00000692883.1:c.5325A>G
ENST00000693321.1:c.5260A>G
ENST00000693738.1:n.2442A>G
XM_011533631.1:c.7079A>G XP_011531933.1:p.Gln2360Arg
XM_011533632.1:c.7025A>G XP_011531934.1:p.Gln2342Arg
XM_011533632.3:c.7025A>G XP_011531934.1:p.Gln2342Arg
XM_011533633.1:c.6944A>G XP_011531935.1:p.Gln2315Arg
XM_011533634.1:c.6869A>G XP_011531936.1:p.Gln2290Arg
XM_024453487.1:c.6734A>G XP_024309255.1:p.Gln2245Arg
XM_024453488.1:c.6569A>G XP_024309256.1:p.Gln2190Arg
XR_001740131.2:n.7037A>G
XR_002959510.1:n.6930A>G
XR_002959511.1:n.7213A>G
XR_002959512.1:n.7313A>G
XR_002959513.1:n.7147A>G
XR_002959515.1:n.7178A>G
XR_940418.1:n.7094A>G