Canonical Allele Identifier: CA2197827
Gene: PER2 HGNC NCBI
COSMIC:
COSN15321970 (not active)
COSN26728695 (not active)
COSN26730917 (not active)
MyVariant.info:
GRCh38 chr2:g.238275940G>A
GRCh37 chr2:g.239184581G>A
gnomAD v2:
2:239184581 G / A
gnomAD v3:
2:238275940 G / A
gnomAD v4:
chr2-238275940-G-A
Joint Max Group AF 0.38056156 (NFE)
Genomes Max Group AF 0.37019379 (NFE)
Exomes Max Group AF 0.38099107 (NFE)
dbSNP:
10462023
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.238275940G>A , CM000664.2:g.238275940G>A GRCh38
NC_000002.11:g.239184581G>A , CM000664.1:g.239184581G>A GRCh37
NC_000002.10:g.238849320G>A NCBI36
NG_012146.1:g.17627C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000707129.1:c.294-43C>T ENSP00000516757.1:n.294-43C>T
ENST00000707130.1:c.294-43C>T ENSP00000516758.1:n.294-43C>T
ENST00000254657.8:c.294-43C>T MANE Select ENSP00000254657.3:n.294-43C>T
ENST00000254657.7:c.294-43C>T ENSP00000254657.3:n.294-43C>T
ENST00000355768.6:c.294-43C>T ENSP00000348013.2:n.294-43C>T
ENST00000431832.1:c.294-43C>T ENSP00000405891.1:n.294-43C>T
NM_022817.2:c.294-43C>T NP_073728.1:n.294-43C>T
XM_005246111.3:c.294-43C>T XP_005246168.1:n.294-43C>T
XM_006712824.2:c.294-43C>T XP_006712887.1:n.294-43C>T
XM_005246111.4:c.294-43C>T XP_005246168.1:n.294-43C>T
XM_006712824.4:c.294-43C>T XP_006712887.1:n.294-43C>T
NM_022817.3:c.294-43C>T MANE Select NP_073728.1:n.294-43C>T
Search 100 bp 5'
Search 100 bp 3'