Canonical Allele Identifier: CA433601961

Gene: SETD2

Linked Data

• dbSNP Id: rs777220690
• gnomAD v4: 3-47122191-T-A
• MyVariant Identifiers: chr3:g.47163681T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47122191T>A , CM000665.2:g.47122191T>A	GRCh38
NC_000003.11:g.47163681T>A , CM000665.1:g.47163681T>A	GRCh37
NC_000003.10:g.47138685T>A	NCBI36
NG_032091.1:g.46787A>T , LRG_775:g.46787A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638947.2:c.2313A>T	ENSP00000491413.2:p.Ser771=
ENST00000685005.1:c.2346A>T	ENSP00000509568.1:p.Ser782=
ENST00000685399.1:c.325A>T
ENST00000685505.1:c.386A>T
ENST00000686773.1:c.325A>T
ENST00000688290.1:c.325A>T
ENST00000690461.1:c.609A>T	ENSP00000509352.1:p.Ser203=
ENST00000691544.1:c.72-24110A>T	ENSP00000510710.1:n.72-24110A>T
ENST00000692883.1:c.386A>T
ENST00000693321.1:c.325A>T
ENST00000409792.4:c.2445A>T MANE Select	ENSP00000386759.3:p.Ser815=
ENST00000330022.11:c.2060A>T
ENST00000409792.3:c.2445A>T	ENSP00000386759.3:p.Ser815=
ENST00000412450.1:c.2313A>T	ENSP00000416401.1:p.Ser771=
ENST00000431180.5:c.1597A>T
ENST00000445387.5:c.1345A>T
NM_014159.6:c.2445A>T , LRG_775t1:c.2445A>T	NP_054878.5:p.Ser815=
XM_011533631.1:c.2523A>T	XP_011531933.1:p.Ser841=
XM_011533632.1:c.2469A>T	XP_011531934.1:p.Ser823=
XM_011533633.1:c.2523A>T	XP_011531935.1:p.Ser841=
XM_011533634.1:c.2313A>T	XP_011531936.1:p.Ser771=
XR_940418.1:n.2538A>T
XR_940419.1:n.2626A>T
XR_940420.1:n.2626A>T
NM_001349370.1:c.2313A>T	NP_001336299.1:p.Ser771=
NR_146158.1:n.2498A>T
XM_011533632.3:c.2469A>T	XP_011531934.1:p.Ser823=
XM_024453487.1:c.2313A>T	XP_024309255.1:p.Ser771=
XM_024453488.1:c.2313A>T	XP_024309256.1:p.Ser771=
XM_024453489.1:c.2313A>T	XP_024309257.1:p.Ser771=
XR_001740131.2:n.2498A>T
XR_002959510.1:n.2374A>T
XR_002959511.1:n.2374A>T
XR_002959512.1:n.2374A>T
XR_002959513.1:n.2374A>T
XR_002959514.1:n.2374A>T
XR_002959515.1:n.2374A>T
XR_002959516.1:n.2374A>T
XR_002959517.1:n.2374A>T
NM_001349370.2:c.2313A>T	NP_001336299.1:p.Ser771=
NR_146158.2:n.2634A>T
NM_001349370.3:c.2313A>T	NP_001336299.1:p.Ser771=
NM_014159.7:c.2445A>T MANE Select	NP_054878.5:p.Ser815=
NR_146158.3:n.2634A>T