Canonical Allele Identifier: CA2362482
Community Standard Title: NM_014159.7(SETD2):c.7447G>A (p.Val2483Ile)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47017724C>T , CM000665.2:g.47017724C>T GRCh38
NC_000003.11:g.47059214C>T , CM000665.1:g.47059214C>T GRCh37
NC_000003.10:g.47034218C>T NCBI36
NG_032091.1:g.151254G>A , LRG_775:g.151254G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.7447G>A MANE Select NP_054878.5:p.Val2483Ile
ENST00000409792.4:c.7447G>A MANE Select ENSP00000386759.3:p.Val2483Ile
NM_001349370.1:c.7315G>A NP_001336299.1:p.Val2439Ile
NM_001349370.2:c.7315G>A NP_001336299.1:p.Val2439Ile
NM_001349370.3:c.7315G>A NP_001336299.1:p.Val2439Ile
NM_014159.6:c.7447G>A , LRG_775t1:c.7447G>A NP_054878.5:p.Val2483Ile
NR_146158.1:n.7668G>A
NR_146158.2:n.7804G>A
NR_146158.3:n.7804G>A
ENST00000330022.11:c.7267G>A
ENST00000409792.3:c.7447G>A ENSP00000386759.3:p.Val2483Ile
ENST00000431180.5:c.6643G>A
ENST00000445387.5:c.6423G>A
ENST00000638947.2:c.7315G>A ENSP00000491413.2:p.Val2439Ile
ENST00000685005.1:c.7213G>A ENSP00000509568.1:p.Val2405Ile
ENST00000685237.1:n.4256G>A
ENST00000685505.1:c.5771G>A
ENST00000686773.1:c.5610G>A
ENST00000686792.1:n.1669G>A
ENST00000686876.1:c.4163G>A
ENST00000687657.1:n.1666G>A
ENST00000688290.1:c.5286G>A
ENST00000690157.1:c.3800G>A
ENST00000690461.1:c.5735G>A ENSP00000509352.1:n.5735G>A
ENST00000691544.1:c.2503G>A ENSP00000510710.1:p.Val835Ile
ENST00000691902.1:c.3242G>A
ENST00000692362.1:n.3376G>A
ENST00000692883.1:c.5852G>A
ENST00000693321.1:c.5706G>A
ENST00000693738.1:n.2888G>A
XM_011533631.1:c.7525G>A XP_011531933.1:p.Val2509Ile
XM_011533632.1:c.7471G>A XP_011531934.1:p.Val2491Ile
XM_011533632.3:c.7471G>A XP_011531934.1:p.Val2491Ile
XM_011533633.1:c.7390G>A XP_011531935.1:p.Val2464Ile
XM_011533634.1:c.7315G>A XP_011531936.1:p.Val2439Ile
XM_024453487.1:c.7180G>A XP_024309255.1:p.Val2394Ile
XM_024453488.1:c.7015G>A XP_024309256.1:p.Val2339Ile
XR_001740131.2:n.7483G>A
XR_002959510.1:n.7500G>A
XR_002959511.1:n.7659G>A
XR_002959512.1:n.7759G>A
XR_002959513.1:n.7593G>A
XR_002959515.1:n.7624G>A
XR_940418.1:n.7664G>A