Canonical Allele Identifier: CA388187046

Gene: SETDB2

Linked Data

• MyVariant Identifiers: chr13:g.50056926G>C (hg19) ; chr13:g.49482790G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.49482790G>C , CM000675.2:g.49482790G>C	GRCh38
NC_000013.10:g.50056926G>C , CM000675.1:g.50056926G>C	GRCh37
NC_000013.9:g.48954927G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611815.2:c.1210G>C MANE Select	ENSP00000482240.2:p.Gly404Arg
ENST00000258672.9:c.1210G>C	ENSP00000258672.4:p.Gly404Arg
ENST00000317257.12:c.1210G>C	ENSP00000326477.9:p.Gly404Arg
ENST00000354234.8:c.1246G>C	ENSP00000346175.5:p.Gly416Arg
ENST00000611815.1:c.1246G>C	ENSP00000482240.1:p.Gly416Arg
NM_001160308.1:c.1210G>C	NP_001153780.1:p.Gly404Arg
NM_031915.2:c.1246G>C	NP_114121.2:p.Gly416Arg
XM_005266568.3:c.1210G>C	XP_005266625.1:p.Gly404Arg
XM_005266569.3:c.1174G>C	XP_005266626.1:p.Gly392Arg
XM_005266572.3:c.643G>C	XP_005266629.1:p.Gly215Arg
XM_011535269.1:c.1246G>C	XP_011533571.1:p.Gly416Arg
XM_011535270.1:c.1246G>C	XP_011533572.1:p.Gly416Arg
XM_011535271.1:c.1210G>C	XP_011533573.1:p.Gly404Arg
XM_011535272.1:c.1210G>C	XP_011533574.1:p.Gly404Arg
XM_011535273.1:c.1246G>C	XP_011533575.1:p.Gly416Arg
XM_011535274.1:c.1246G>C	XP_011533576.1:p.Gly416Arg
XM_011535275.1:c.1246G>C	XP_011533577.1:p.Gly416Arg
XM_011535276.1:c.376G>C	XP_011533578.1:p.Gly126Arg
XR_941678.1:n.2152G>C
XR_941680.1:n.2152G>C
NM_001160308.2:c.1210G>C	NP_001153780.1:p.Gly404Arg
NM_001320699.1:c.1210G>C	NP_001307628.1:p.Gly404Arg
NM_001320727.1:c.1210G>C	NP_001307656.1:p.Gly404Arg
NR_135324.1:n.2282G>C
NM_001160308.3:c.1210G>C MANE Select	NP_001153780.1:p.Gly404Arg
NM_001320699.2:c.1210G>C	NP_001307628.1:p.Gly404Arg
NM_001320727.2:c.1210G>C	NP_001307656.1:p.Gly404Arg
NM_031915.3:c.1246G>C	NP_114121.2:p.Gly416Arg
NR_135324.2:n.2301G>C
NM_001393975.1:c.1174G>C	NP_001380904.1:p.Gly392Arg
NM_001393976.1:c.1210G>C	NP_001380905.1:p.Gly404Arg
NM_001393977.1:c.1246G>C	NP_001380906.1:p.Gly416Arg
NM_001393978.1:c.1174G>C	NP_001380907.1:p.Gly392Arg
NM_001393979.1:c.1210G>C	NP_001380908.1:p.Gly404Arg
NM_001393980.1:c.1174G>C	NP_001380909.1:p.Gly392Arg
NR_172062.1:n.2301G>C