Canonical Allele Identifier: CA118132
Gene: PER2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.238257003T>C
GRCh37 chr2:g.239165644T>C
Revel Score:
ENST00000254657 (MANE Select) 0.497
ClinVar Allele:
21384
ClinVar RCV:
RCV000006717
ClinVar Variation:
6345
dbSNP:
121908635
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.238257003T>C , CM000664.2:g.238257003T>C GRCh38
NC_000002.11:g.239165644T>C , CM000664.1:g.239165644T>C GRCh37
NC_000002.10:g.238830383T>C NCBI36
NG_012146.1:g.36564A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000707129.1:c.1984A>G ENSP00000516757.1:p.Ser662Gly
ENST00000707130.1:c.1984A>G ENSP00000516758.1:p.Ser662Gly
ENST00000254657.8:c.1984A>G MANE Select ENSP00000254657.3:p.Ser662Gly
ENST00000254657.7:c.1984A>G ENSP00000254657.3:p.Ser662Gly
NM_022817.2:c.1984A>G NP_073728.1:p.Ser662Gly
XM_005246111.3:c.1984A>G XP_005246168.1:p.Ser662Gly
XM_006712824.2:c.1984A>G XP_006712887.1:p.Ser662Gly
XM_005246111.4:c.1984A>G XP_005246168.1:p.Ser662Gly
XM_006712824.4:c.1984A>G XP_006712887.1:p.Ser662Gly
NM_022817.3:c.1984A>G MANE Select NP_073728.1:p.Ser662Gly
Search 100 bp 5'
Search 100 bp 3'