Canonical Allele Identifier: CA387212449
Gene: NCOR2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.124341916C>G
GRCh37 chr12:g.124826462C>G
Revel Score:
ENST00000405201 (MANE Select) 0.217
ENST00000404621 0.217
ENST00000356219 0.217
ENST00000397355 0.217
ENST00000447011 0.217
ENST00000404121 0.217
ENST00000429285 0.217
ENST00000453428 0.130
dbSNP:
2229840
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000405201.6:c.5095G>C MANE Select ENSP00000384018.1:p.Ala1699Pro
ENST00000356219.7:c.3790G>C ENSP00000348551.4:p.Ala1264Pro
ENST00000404121.6:c.3739G>C ENSP00000385618.3:p.Ala1247Pro
ENST00000404621.5:c.5065G>C ENSP00000384202.1:p.Ala1689Pro
ENST00000405201.5:c.5095G>C ENSP00000384018.1:p.Ala1699Pro
ENST00000429285.6:c.5065G>C ENSP00000400281.2:p.Ala1689Pro
ENST00000453428.1:c.140G>C
NM_001077261.3:c.5065G>C NP_001070729.2:p.Ala1689Pro
NM_001206654.1:c.5065G>C NP_001193583.1:p.Ala1689Pro
NM_006312.5:c.5095G>C NP_006303.4:p.Ala1699Pro
NM_001077261.4:c.5065G>C NP_001070729.2:p.Ala1689Pro
NM_001206654.2:c.5065G>C NP_001193583.1:p.Ala1689Pro
NM_006312.6:c.5095G>C MANE Select NP_006303.4:p.Ala1699Pro
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