Canonical Allele Identifier: CA433602119
Gene: SETD2 HGNC NCBI

Linked Data

dbSNP Id: rs2106674261
MyVariant Identifiers: chr3:g.47163774A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47122284A>T , CM000665.2:g.47122284A>T GRCh38
NC_000003.11:g.47163774A>T , CM000665.1:g.47163774A>T GRCh37
NC_000003.10:g.47138778A>T NCBI36
NG_032091.1:g.46694T>A , LRG_775:g.46694T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000638947.2:c.2220T>A ENSP00000491413.2:p.Ser740=
ENST00000685005.1:c.2253T>A ENSP00000509568.1:p.Ser751=
ENST00000685399.1:c.232T>A
ENST00000685505.1:c.293T>A
ENST00000686773.1:c.232T>A
ENST00000688290.1:c.232T>A
ENST00000690461.1:c.516T>A ENSP00000509352.1:p.Ser172=
ENST00000691544.1:c.72-24203T>A ENSP00000510710.1:n.72-24203T>A
ENST00000692883.1:c.293T>A
ENST00000693321.1:c.232T>A
ENST00000409792.4:c.2352T>A MANE Select ENSP00000386759.3:p.Ser784=
ENST00000330022.11:c.1967T>A
ENST00000409792.3:c.2352T>A ENSP00000386759.3:p.Ser784=
ENST00000412450.1:c.2220T>A ENSP00000416401.1:p.Ser740=
ENST00000431180.5:c.1504T>A
ENST00000445387.5:c.1252T>A
NM_014159.6:c.2352T>A , LRG_775t1:c.2352T>A NP_054878.5:p.Ser784=
XM_011533631.1:c.2430T>A XP_011531933.1:p.Ser810=
XM_011533632.1:c.2376T>A XP_011531934.1:p.Ser792=
XM_011533633.1:c.2430T>A XP_011531935.1:p.Ser810=
XM_011533634.1:c.2220T>A XP_011531936.1:p.Ser740=
XR_940418.1:n.2445T>A
XR_940419.1:n.2533T>A
XR_940420.1:n.2533T>A
NM_001349370.1:c.2220T>A NP_001336299.1:p.Ser740=
NR_146158.1:n.2405T>A
XM_011533632.3:c.2376T>A XP_011531934.1:p.Ser792=
XM_024453487.1:c.2220T>A XP_024309255.1:p.Ser740=
XM_024453488.1:c.2220T>A XP_024309256.1:p.Ser740=
XM_024453489.1:c.2220T>A XP_024309257.1:p.Ser740=
XR_001740131.2:n.2405T>A
XR_002959510.1:n.2281T>A
XR_002959511.1:n.2281T>A
XR_002959512.1:n.2281T>A
XR_002959513.1:n.2281T>A
XR_002959514.1:n.2281T>A
XR_002959515.1:n.2281T>A
XR_002959516.1:n.2281T>A
XR_002959517.1:n.2281T>A
NM_001349370.2:c.2220T>A NP_001336299.1:p.Ser740=
NR_146158.2:n.2541T>A
NM_001349370.3:c.2220T>A NP_001336299.1:p.Ser740=
NM_014159.7:c.2352T>A MANE Select NP_054878.5:p.Ser784=
NR_146158.3:n.2541T>A