Canonical Allele Identifier: CA686705
Gene: CNR2 HGNC NCBI
COSMIC:
COSM3735960 (not active)
COSM3735961 (not active)
MyVariant.info:
GRCh38 chr1:g.23874672G>A
GRCh37 chr1:g.24201162G>A
Revel Score:
ENST00000374472 (MANE Select) 0.016
ENST00000536471 0.016
gnomAD v2:
1:24201162 G / A
gnomAD v3:
1:23874672 G / A
gnomAD v4:
chr1-23874672-G-A
Joint Max Group AF 0.17765702 (EAS)
Genomes Max Group AF 0.19670648 (EAS)
Exomes Max Group AF 0.17409306 (EAS)
dbSNP:
2229579
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23874672G>A , CM000663.2:g.23874672G>A GRCh38
NC_000001.10:g.24201162G>A , CM000663.1:g.24201162G>A GRCh37
NC_000001.9:g.24073749G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374472.5:c.946C>T MANE Select ENSP00000363596.4:p.His316Tyr
ENST00000374472.4:c.946C>T ENSP00000363596.4:p.His316Tyr
NM_001841.2:c.946C>T NP_001832.1:p.His316Tyr
XM_005245736.3:c.946C>T XP_005245793.1:p.His316Tyr
XM_011540627.1:c.946C>T XP_011538929.1:p.His316Tyr
XM_011540628.1:c.946C>T XP_011538930.1:p.His316Tyr
XM_011540629.1:c.946C>T XP_011538931.1:p.His316Tyr
XM_011540629.3:c.946C>T XP_011538931.1:p.His316Tyr
XM_017000261.2:c.946C>T XP_016855750.1:p.His316Tyr
NM_001841.3:c.946C>T MANE Select NP_001832.1:p.His316Tyr
Search 100 bp 5'
Search 100 bp 3'