Canonical Allele Identifier: CA686856
Gene: CNR2 HGNC NCBI
COSMIC:
COSM146448 (not active)
COSM3927625 (not active)
MyVariant.info:
GRCh38 chr1:g.23875430T>C
GRCh37 chr1:g.24201920T>C
Revel Score:
ENST00000374472 (MANE Select) 0.118
ENST00000536471 0.118
gnomAD v2:
1:24201920 T / C
gnomAD v3:
1:23875430 T / C
gnomAD v4:
chr1-23875430-T-C
Joint Max Group AF 0.75453697 (AFR)
Genomes Max Group AF 0.74814505 (AFR)
Exomes Max Group AF 0.75762321 (AFR)
dbSNP:
2501432
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23875430T>C , CM000663.2:g.23875430T>C GRCh38
NC_000001.10:g.24201920T>C , CM000663.1:g.24201920T>C GRCh37
NC_000001.9:g.24074507T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374472.5:c.188A>G MANE Select ENSP00000363596.4:p.Gln63Arg
ENST00000374472.4:c.188A>G ENSP00000363596.4:p.Gln63Arg
NM_001841.2:c.188A>G NP_001832.1:p.Gln63Arg
XM_005245736.3:c.188A>G XP_005245793.1:p.Gln63Arg
XM_011540627.1:c.188A>G XP_011538929.1:p.Gln63Arg
XM_011540628.1:c.188A>G XP_011538930.1:p.Gln63Arg
XM_011540629.1:c.188A>G XP_011538931.1:p.Gln63Arg
XM_011540629.3:c.188A>G XP_011538931.1:p.Gln63Arg
XM_017000261.2:c.188A>G XP_016855750.1:p.Gln63Arg
NM_001841.3:c.188A>G MANE Select NP_001832.1:p.Gln63Arg
Search 100 bp 5'
Search 100 bp 3'