Canonical Allele Identifier: CA2197918
Gene: PER2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.238277948G>C
GRCh37 chr2:g.239186589G>C
gnomAD v2:
2:239186589 G / C
gnomAD v3:
2:238277948 G / C
gnomAD v4:
chr2-238277948-G-C
Joint Max Group AF 0.13669523 (SAS)
Genomes Max Group AF 0.11845126 (SAS)
Exomes Max Group AF 0.13730498 (SAS)
dbSNP:
2304672
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.238277948G>C , CM000664.2:g.238277948G>C GRCh38
NC_000002.11:g.239186589G>C , CM000664.1:g.239186589G>C GRCh37
NC_000002.10:g.238851328G>C NCBI36
NG_012146.1:g.15619C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000707129.1:c.-12C>G ENSP00000516757.1:n.-12C>G
ENST00000707130.1:c.-12C>G ENSP00000516758.1:n.-12C>G
ENST00000254657.8:c.-12C>G MANE Select ENSP00000254657.3:n.-12C>G
ENST00000254657.7:c.-12C>G ENSP00000254657.3:n.-12C>G
ENST00000431832.1:c.-12C>G ENSP00000405891.1:n.-12C>G
NM_022817.2:c.-12C>G NP_073728.1:n.-12C>G
XM_005246111.3:c.-12C>G XP_005246168.1:n.-12C>G
XM_006712824.2:c.-12C>G XP_006712887.1:n.-12C>G
XM_005246111.4:c.-12C>G XP_005246168.1:n.-12C>G
XM_006712824.4:c.-12C>G XP_006712887.1:n.-12C>G
NM_022817.3:c.-12C>G MANE Select NP_073728.1:n.-12C>G
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