Canonical Allele Identifier: CA6868078
Gene: NCOR2 HGNC NCBI
COSMIC:
COSM3765630 (not active)
COSM3765631 (not active)
MyVariant.info:
GRCh38 chr12:g.124341916C>T
GRCh37 chr12:g.124826462C>T
Revel Score:
ENST00000405201 (MANE Select) 0.094
ENST00000404621 0.094
ENST00000356219 0.094
ENST00000397355 0.094
ENST00000447011 0.094
ENST00000404121 0.094
ENST00000429285 0.094
ENST00000453428 0.043
gnomAD v2:
12:124826462 C / T
gnomAD v3:
12:124341916 C / T
gnomAD v4:
chr12-124341916-C-T
Joint Max Group AF 0.2275453 (AMR)
Genomes Max Group AF 0.19331523 (AMR)
Exomes Max Group AF 0.23773729 (AMR)
ClinVar RCV:
RCV001688152
RCV003975987
ClinVar Variation:
1278544
dbSNP:
2229840
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.124341916C>T , CM000674.2:g.124341916C>T GRCh38
NC_000012.11:g.124826462C>T , CM000674.1:g.124826462C>T GRCh37
NC_000012.10:g.123392415C>T NCBI36
NG_022928.2:g.230549G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405201.6:c.5095G>A MANE Select ENSP00000384018.1:p.Ala1699Thr
ENST00000356219.7:c.3790G>A ENSP00000348551.4:p.Ala1264Thr
ENST00000404121.6:c.3739G>A ENSP00000385618.3:p.Ala1247Thr
ENST00000404621.5:c.5065G>A ENSP00000384202.1:p.Ala1689Thr
ENST00000405201.5:c.5095G>A ENSP00000384018.1:p.Ala1699Thr
ENST00000429285.6:c.5065G>A ENSP00000400281.2:p.Ala1689Thr
ENST00000453428.1:c.140G>A
NM_001077261.3:c.5065G>A NP_001070729.2:p.Ala1689Thr
NM_001206654.1:c.5065G>A NP_001193583.1:p.Ala1689Thr
NM_006312.5:c.5095G>A NP_006303.4:p.Ala1699Thr
NM_001077261.4:c.5065G>A NP_001070729.2:p.Ala1689Thr
NM_001206654.2:c.5065G>A NP_001193583.1:p.Ala1689Thr
NM_006312.6:c.5095G>A MANE Select NP_006303.4:p.Ala1699Thr
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