Canonical Allele Identifier: CA11051139
Gene: PER2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.238273263A>G
GRCh37 chr2:g.239181904A>G
gnomAD v2:
2:239181904 A / G
gnomAD v3:
2:238273263 A / G
gnomAD v4:
chr2-238273263-A-G
Joint Max Group AF 0.47965116 (AFR)
Genomes Max Group AF 0.47484583 (AFR)
Exomes Max Group AF 0.48198624 (AFR)
dbSNP:
2304674
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.238273263A>G , CM000664.2:g.238273263A>G GRCh38
NC_000002.11:g.239181904A>G , CM000664.1:g.239181904A>G GRCh37
NC_000002.10:g.238846643A>G NCBI36
NG_012146.1:g.20304T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000707129.1:c.449-72T>C ENSP00000516757.1:n.449-72T>C
ENST00000707130.1:c.449-72T>C ENSP00000516758.1:n.449-72T>C
ENST00000254657.8:c.449-72T>C MANE Select ENSP00000254657.3:n.449-72T>C
ENST00000254657.7:c.449-72T>C ENSP00000254657.3:n.449-72T>C
ENST00000355768.6:c.449-72T>C ENSP00000348013.2:n.449-72T>C
NM_022817.2:c.449-72T>C NP_073728.1:n.449-72T>C
XM_005246111.3:c.449-72T>C XP_005246168.1:n.449-72T>C
XM_006712824.2:c.449-72T>C XP_006712887.1:n.449-72T>C
XM_005246111.4:c.449-72T>C XP_005246168.1:n.449-72T>C
XM_006712824.4:c.449-72T>C XP_006712887.1:n.449-72T>C
NM_022817.3:c.449-72T>C MANE Select NP_073728.1:n.449-72T>C
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