Canonical Allele Identifier: CA2363668

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47123056A>G , CM000665.2:g.47123056A>G	GRCh38
NC_000003.11:g.47164546A>G , CM000665.1:g.47164546A>G	GRCh37
NC_000003.10:g.47139550A>G	NCBI36
NG_032091.1:g.45922T>C , LRG_775:g.45922T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.1580T>C MANE Select	NP_054878.5:p.Ile527Thr
ENST00000409792.4:c.1580T>C MANE Select	ENSP00000386759.3:p.Ile527Thr
NM_001349370.1:c.1448T>C	NP_001336299.1:p.Ile483Thr
NM_001349370.2:c.1448T>C	NP_001336299.1:p.Ile483Thr
NM_001349370.3:c.1448T>C	NP_001336299.1:p.Ile483Thr
NM_014159.6:c.1580T>C , LRG_775t1:c.1580T>C	NP_054878.5:p.Ile527Thr
NR_146158.1:n.1633T>C
NR_146158.2:n.1769T>C
NR_146158.3:n.1769T>C
ENST00000330022.11:c.1195T>C
ENST00000409792.3:c.1580T>C	ENSP00000386759.3:p.Ile527Thr
ENST00000412450.1:c.1448T>C	ENSP00000416401.1:p.Ile483Thr
ENST00000431180.5:c.732T>C
ENST00000445387.5:c.480T>C
ENST00000638947.2:c.1448T>C	ENSP00000491413.2:p.Ile483Thr
ENST00000685005.1:c.1481T>C	ENSP00000509568.1:p.Ile494Thr
ENST00000691544.1:c.72-24975T>C	ENSP00000510710.1:n.72-24975T>C
XM_011533631.1:c.1658T>C	XP_011531933.1:p.Ile553Thr
XM_011533632.1:c.1604T>C	XP_011531934.1:p.Ile535Thr
XM_011533632.3:c.1604T>C	XP_011531934.1:p.Ile535Thr
XM_011533633.1:c.1658T>C	XP_011531935.1:p.Ile553Thr
XM_011533634.1:c.1448T>C	XP_011531936.1:p.Ile483Thr
XM_024453487.1:c.1448T>C	XP_024309255.1:p.Ile483Thr
XM_024453488.1:c.1448T>C	XP_024309256.1:p.Ile483Thr
XM_024453489.1:c.1448T>C	XP_024309257.1:p.Ile483Thr
XR_001740131.2:n.1633T>C
XR_002959510.1:n.1509T>C
XR_002959511.1:n.1509T>C
XR_002959512.1:n.1509T>C
XR_002959513.1:n.1509T>C
XR_002959514.1:n.1509T>C
XR_002959515.1:n.1509T>C
XR_002959516.1:n.1509T>C
XR_002959517.1:n.1509T>C
XR_940418.1:n.1673T>C
XR_940419.1:n.1761T>C
XR_940420.1:n.1761T>C