Canonical Allele Identifier: CA433602140
Gene: SETD2 HGNC NCBI

Linked Data

dbSNP Id: rs776618418
MyVariant Identifiers: chr3:g.47163783C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47122293C>A , CM000665.2:g.47122293C>A GRCh38
NC_000003.11:g.47163783C>A , CM000665.1:g.47163783C>A GRCh37
NC_000003.10:g.47138787C>A NCBI36
NG_032091.1:g.46685G>T , LRG_775:g.46685G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000638947.2:c.2211G>T ENSP00000491413.2:p.Thr737=
ENST00000685005.1:c.2244G>T ENSP00000509568.1:p.Thr748=
ENST00000685399.1:c.223G>T
ENST00000685505.1:c.284G>T
ENST00000686773.1:c.223G>T
ENST00000688290.1:c.223G>T
ENST00000690461.1:c.507G>T ENSP00000509352.1:p.Thr169=
ENST00000691544.1:c.72-24212G>T ENSP00000510710.1:n.72-24212G>T
ENST00000692883.1:c.284G>T
ENST00000693321.1:c.223G>T
ENST00000409792.4:c.2343G>T MANE Select ENSP00000386759.3:p.Thr781=
ENST00000330022.11:c.1958G>T
ENST00000409792.3:c.2343G>T ENSP00000386759.3:p.Thr781=
ENST00000412450.1:c.2211G>T ENSP00000416401.1:p.Thr737=
ENST00000431180.5:c.1495G>T
ENST00000445387.5:c.1243G>T
NM_014159.6:c.2343G>T , LRG_775t1:c.2343G>T NP_054878.5:p.Thr781=
XM_011533631.1:c.2421G>T XP_011531933.1:p.Thr807=
XM_011533632.1:c.2367G>T XP_011531934.1:p.Thr789=
XM_011533633.1:c.2421G>T XP_011531935.1:p.Thr807=
XM_011533634.1:c.2211G>T XP_011531936.1:p.Thr737=
XR_940418.1:n.2436G>T
XR_940419.1:n.2524G>T
XR_940420.1:n.2524G>T
NM_001349370.1:c.2211G>T NP_001336299.1:p.Thr737=
NR_146158.1:n.2396G>T
XM_011533632.3:c.2367G>T XP_011531934.1:p.Thr789=
XM_024453487.1:c.2211G>T XP_024309255.1:p.Thr737=
XM_024453488.1:c.2211G>T XP_024309256.1:p.Thr737=
XM_024453489.1:c.2211G>T XP_024309257.1:p.Thr737=
XR_001740131.2:n.2396G>T
XR_002959510.1:n.2272G>T
XR_002959511.1:n.2272G>T
XR_002959512.1:n.2272G>T
XR_002959513.1:n.2272G>T
XR_002959514.1:n.2272G>T
XR_002959515.1:n.2272G>T
XR_002959516.1:n.2272G>T
XR_002959517.1:n.2272G>T
NM_001349370.2:c.2211G>T NP_001336299.1:p.Thr737=
NR_146158.2:n.2532G>T
NM_001349370.3:c.2211G>T NP_001336299.1:p.Thr737=
NM_014159.7:c.2343G>T MANE Select NP_054878.5:p.Thr781=
NR_146158.3:n.2532G>T