Canonical Allele Identifier: CA1362417994
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47122201A= , CM000665.2:g.47122201A= GRCh38
NC_000003.11:g.47163691A= , CM000665.1:g.47163691A= GRCh37
NC_000003.10:g.47138695A= NCBI36
NG_032091.1:g.46777T= , LRG_775:g.46777T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000638947.2:c.2303T= ENSP00000491413.2:p.Ile768=
ENST00000685005.1:c.2336T= ENSP00000509568.1:p.Ile779=
ENST00000685399.1:c.315T=
ENST00000685505.1:c.376T=
ENST00000686773.1:c.315T=
ENST00000688290.1:c.315T=
ENST00000690461.1:c.599T= ENSP00000509352.1:p.Ile200=
ENST00000691544.1:c.72-24120T= ENSP00000510710.1:n.72-24120T=
ENST00000692883.1:c.376T=
ENST00000693321.1:c.315T=
ENST00000409792.4:c.2435T= MANE Select ENSP00000386759.3:p.Ile812=
ENST00000330022.11:c.2050T=
ENST00000409792.3:c.2435T= ENSP00000386759.3:p.Ile812=
ENST00000412450.1:c.2303T= ENSP00000416401.1:p.Ile768=
ENST00000431180.5:c.1587T=
ENST00000445387.5:c.1335T=
NM_014159.6:c.2435T= , LRG_775t1:c.2435T= NP_054878.5:p.Ile812=
XM_011533631.1:c.2513T= XP_011531933.1:p.Ile838=
XM_011533632.1:c.2459T= XP_011531934.1:p.Ile820=
XM_011533633.1:c.2513T= XP_011531935.1:p.Ile838=
XM_011533634.1:c.2303T= XP_011531936.1:p.Ile768=
XR_940418.1:n.2528T=
XR_940419.1:n.2616T=
XR_940420.1:n.2616T=
NM_001349370.1:c.2303T= NP_001336299.1:p.Ile768=
NR_146158.1:n.2488T=
XM_011533632.3:c.2459T= XP_011531934.1:p.Ile820=
XM_024453487.1:c.2303T= XP_024309255.1:p.Ile768=
XM_024453488.1:c.2303T= XP_024309256.1:p.Ile768=
XM_024453489.1:c.2303T= XP_024309257.1:p.Ile768=
XR_001740131.2:n.2488T=
XR_002959510.1:n.2364T=
XR_002959511.1:n.2364T=
XR_002959512.1:n.2364T=
XR_002959513.1:n.2364T=
XR_002959514.1:n.2364T=
XR_002959515.1:n.2364T=
XR_002959516.1:n.2364T=
XR_002959517.1:n.2364T=
NM_001349370.2:c.2303T= NP_001336299.1:p.Ile768=
NR_146158.2:n.2624T=
NM_001349370.3:c.2303T= NP_001336299.1:p.Ile768=
NM_014159.7:c.2435T= MANE Select NP_054878.5:p.Ile812=
NR_146158.3:n.2624T=