Canonical Allele Identifier: CA2362457
Community Standard Title: NM_014159.7(SETD2):c.7660G>A (p.Val2554Ile)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47017128C>T , CM000665.2:g.47017128C>T GRCh38
NC_000003.11:g.47058618C>T , CM000665.1:g.47058618C>T GRCh37
NC_000003.10:g.47033622C>T NCBI36
NG_032091.1:g.151850G>A , LRG_775:g.151850G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.7660G>A MANE Select NP_054878.5:p.Val2554Ile
ENST00000409792.4:c.7660G>A MANE Select ENSP00000386759.3:p.Val2554Ile
NM_001349370.1:c.7528G>A NP_001336299.1:p.Val2510Ile
NM_001349370.2:c.7528G>A NP_001336299.1:p.Val2510Ile
NM_001349370.3:c.7528G>A NP_001336299.1:p.Val2510Ile
NM_014159.6:c.7660G>A , LRG_775t1:c.7660G>A NP_054878.5:p.Val2554Ile
NR_146158.1:n.7881G>A
NR_146158.2:n.8017G>A
NR_146158.3:n.8017G>A
ENST00000330022.11:c.7480G>A
ENST00000409792.3:c.7660G>A ENSP00000386759.3:p.Val2554Ile
ENST00000431180.5:c.6856G>A
ENST00000445387.5:c.6636G>A
ENST00000638947.2:c.7528G>A ENSP00000491413.2:p.Val2510Ile
ENST00000685005.1:c.7426G>A ENSP00000509568.1:p.Val2476Ile
ENST00000685237.1:n.4469G>A
ENST00000685505.1:c.5984G>A
ENST00000686773.1:c.5823G>A
ENST00000686792.1:n.1882G>A
ENST00000686876.1:c.4376G>A
ENST00000687657.1:n.1879G>A
ENST00000688290.1:c.5499G>A
ENST00000690157.1:c.4013G>A
ENST00000690461.1:c.5948G>A ENSP00000509352.1:n.5948G>A
ENST00000691544.1:c.2716G>A ENSP00000510710.1:p.Val906Ile
ENST00000691902.1:c.3455G>A
ENST00000692362.1:n.3589G>A
ENST00000692883.1:c.6065G>A
ENST00000693321.1:c.5919G>A
ENST00000693738.1:n.3101G>A
XM_011533631.1:c.7738G>A XP_011531933.1:p.Val2580Ile
XM_011533632.1:c.7684G>A XP_011531934.1:p.Val2562Ile
XM_011533632.3:c.7684G>A XP_011531934.1:p.Val2562Ile
XM_011533633.1:c.7603G>A XP_011531935.1:p.Val2535Ile
XM_011533634.1:c.7528G>A XP_011531936.1:p.Val2510Ile
XM_024453487.1:c.7393G>A XP_024309255.1:p.Val2465Ile
XM_024453488.1:c.7228G>A XP_024309256.1:p.Val2410Ile
XR_001740131.2:n.7696G>A
XR_002959510.1:n.7713G>A
XR_002959511.1:n.7872G>A
XR_002959512.1:n.7972G>A
XR_002959515.1:n.7837G>A