Canonical Allele Identifier: CA2363481
Community Standard Title: NM_014159.7(SETD2):c.2819G>T (p.Gly940Val)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47121817C>A , CM000665.2:g.47121817C>A GRCh38
NC_000003.11:g.47163307C>A , CM000665.1:g.47163307C>A GRCh37
NC_000003.10:g.47138311C>A NCBI36
NG_032091.1:g.47161G>T , LRG_775:g.47161G>T

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.2819G>T MANE Select NP_054878.5:p.Gly940Val
ENST00000409792.4:c.2819G>T MANE Select ENSP00000386759.3:p.Gly940Val
NM_001349370.1:c.2687G>T NP_001336299.1:p.Gly896Val
NM_001349370.2:c.2687G>T NP_001336299.1:p.Gly896Val
NM_001349370.3:c.2687G>T NP_001336299.1:p.Gly896Val
NM_014159.6:c.2819G>T , LRG_775t1:c.2819G>T NP_054878.5:p.Gly940Val
NR_146158.1:n.2872G>T
NR_146158.2:n.3008G>T
NR_146158.3:n.3008G>T
ENST00000330022.11:c.2434G>T
ENST00000409792.3:c.2819G>T ENSP00000386759.3:p.Gly940Val
ENST00000412450.1:c.2687G>T ENSP00000416401.1:p.Gly896Val
ENST00000431180.5:c.1971G>T
ENST00000445387.5:c.1719G>T
ENST00000638947.2:c.2687G>T ENSP00000491413.2:p.Gly896Val
ENST00000685005.1:c.2720G>T ENSP00000509568.1:p.Gly907Val
ENST00000685399.1:c.699G>T
ENST00000685505.1:c.760G>T
ENST00000686773.1:c.699G>T
ENST00000688290.1:c.699G>T
ENST00000690461.1:c.983G>T ENSP00000509352.1:p.Gly328Val
ENST00000691544.1:c.72-23736G>T ENSP00000510710.1:n.72-23736G>T
ENST00000692883.1:c.760G>T
ENST00000693321.1:c.699G>T
XM_011533631.1:c.2897G>T XP_011531933.1:p.Gly966Val
XM_011533632.1:c.2843G>T XP_011531934.1:p.Gly948Val
XM_011533632.3:c.2843G>T XP_011531934.1:p.Gly948Val
XM_011533633.1:c.2897G>T XP_011531935.1:p.Gly966Val
XM_011533634.1:c.2687G>T XP_011531936.1:p.Gly896Val
XM_024453487.1:c.2687G>T XP_024309255.1:p.Gly896Val
XM_024453488.1:c.2687G>T XP_024309256.1:p.Gly896Val
XM_024453489.1:c.2687G>T XP_024309257.1:p.Gly896Val
XR_001740131.2:n.2872G>T
XR_002959510.1:n.2748G>T
XR_002959511.1:n.2748G>T
XR_002959512.1:n.2748G>T
XR_002959513.1:n.2748G>T
XR_002959514.1:n.2748G>T
XR_002959515.1:n.2748G>T
XR_002959516.1:n.2748G>T
XR_002959517.1:n.2748G>T
XR_940418.1:n.2912G>T
XR_940419.1:n.3000G>T
XR_940420.1:n.3000G>T