Canonical Allele Identifier: CA1362417985
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47122195G= , CM000665.2:g.47122195G= GRCh38
NC_000003.11:g.47163685G= , CM000665.1:g.47163685G= GRCh37
NC_000003.10:g.47138689G= NCBI36
NG_032091.1:g.46783C= , LRG_775:g.46783C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000638947.2:c.2309C= ENSP00000491413.2:p.Pro770=
ENST00000685005.1:c.2342C= ENSP00000509568.1:p.Pro781=
ENST00000685399.1:c.321C=
ENST00000685505.1:c.382C=
ENST00000686773.1:c.321C=
ENST00000688290.1:c.321C=
ENST00000690461.1:c.605C= ENSP00000509352.1:p.Pro202=
ENST00000691544.1:c.72-24114C= ENSP00000510710.1:n.72-24114C=
ENST00000692883.1:c.382C=
ENST00000693321.1:c.321C=
ENST00000409792.4:c.2441C= MANE Select ENSP00000386759.3:p.Pro814=
ENST00000330022.11:c.2056C=
ENST00000409792.3:c.2441C= ENSP00000386759.3:p.Pro814=
ENST00000412450.1:c.2309C= ENSP00000416401.1:p.Pro770=
ENST00000431180.5:c.1593C=
ENST00000445387.5:c.1341C=
NM_014159.6:c.2441C= , LRG_775t1:c.2441C= NP_054878.5:p.Pro814=
XM_011533631.1:c.2519C= XP_011531933.1:p.Pro840=
XM_011533632.1:c.2465C= XP_011531934.1:p.Pro822=
XM_011533633.1:c.2519C= XP_011531935.1:p.Pro840=
XM_011533634.1:c.2309C= XP_011531936.1:p.Pro770=
XR_940418.1:n.2534C=
XR_940419.1:n.2622C=
XR_940420.1:n.2622C=
NM_001349370.1:c.2309C= NP_001336299.1:p.Pro770=
NR_146158.1:n.2494C=
XM_011533632.3:c.2465C= XP_011531934.1:p.Pro822=
XM_024453487.1:c.2309C= XP_024309255.1:p.Pro770=
XM_024453488.1:c.2309C= XP_024309256.1:p.Pro770=
XM_024453489.1:c.2309C= XP_024309257.1:p.Pro770=
XR_001740131.2:n.2494C=
XR_002959510.1:n.2370C=
XR_002959511.1:n.2370C=
XR_002959512.1:n.2370C=
XR_002959513.1:n.2370C=
XR_002959514.1:n.2370C=
XR_002959515.1:n.2370C=
XR_002959516.1:n.2370C=
XR_002959517.1:n.2370C=
NM_001349370.2:c.2309C= NP_001336299.1:p.Pro770=
NR_146158.2:n.2630C=
NM_001349370.3:c.2309C= NP_001336299.1:p.Pro770=
NM_014159.7:c.2441C= MANE Select NP_054878.5:p.Pro814=
NR_146158.3:n.2630C=