Canonical Allele Identifier: CA2196877
Gene: PER2 HGNC NCBI

Linked Data

ClinVar Variation Id: 376949
ClinVar RCV Id: RCV000440899
dbSNP Id: rs138750527
ExAC: 2:239160264 A / G
gnomAD v2: 2-239160264-A-G
gnomAD v3: 2-238251623-A-G
gnomAD v4: 2-238251623-A-G
MyVariant Identifiers: chr2:g.239160264A>G (hg19) chr2:g.238251623A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.238251623A>G , CM000664.2:g.238251623A>G GRCh38
NC_000002.11:g.239160264A>G , CM000664.1:g.239160264A>G GRCh37
NC_000002.10:g.238825003A>G NCBI36
NG_012146.1:g.41944T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000707129.1:c.3250T>C ENSP00000516757.1:p.Cys1084Arg
ENST00000707130.1:c.3250T>C ENSP00000516758.1:p.Cys1084Arg
ENST00000254657.8:c.3250T>C MANE Select ENSP00000254657.3:p.Cys1084Arg
ENST00000254657.7:c.3250T>C ENSP00000254657.3:p.Cys1084Arg
NM_022817.2:c.3250T>C NP_073728.1:p.Cys1084Arg
XM_005246111.3:c.3250T>C XP_005246168.1:p.Cys1084Arg
XM_006712824.2:c.3250T>C XP_006712887.1:p.Cys1084Arg
XM_005246111.4:c.3250T>C XP_005246168.1:p.Cys1084Arg
XM_006712824.4:c.3250T>C XP_006712887.1:p.Cys1084Arg
NM_022817.3:c.3250T>C MANE Select NP_073728.1:p.Cys1084Arg
Search 100 bp 5'
Search 100 bp 3'