Canonical Allele Identifier: CA2197203

Gene: PER2

Linked Data

• ClinVar Variation Id: 2464325
• ClinVar RCV Id: RCV003201872
• dbSNP Id: rs772004416
• ExAC: 2:239165580 T / C
• gnomAD v2: 2-239165580-T-C
• gnomAD v3: 2-238256939-T-C
• gnomAD v4: 2-238256939-T-C
• MyVariant Identifiers: chr2:g.239165580T>C (hg19) ; chr2:g.238256939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238256939T>C , CM000664.2:g.238256939T>C	GRCh38
NC_000002.11:g.239165580T>C , CM000664.1:g.239165580T>C	GRCh37
NC_000002.10:g.238830319T>C	NCBI36
NG_012146.1:g.36628A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707129.1:c.2048A>G	ENSP00000516757.1:p.Lys683Arg
ENST00000707130.1:c.2048A>G	ENSP00000516758.1:p.Lys683Arg
ENST00000254657.8:c.2048A>G MANE Select	ENSP00000254657.3:p.Lys683Arg
ENST00000254657.7:c.2048A>G	ENSP00000254657.3:p.Lys683Arg
NM_022817.2:c.2048A>G	NP_073728.1:p.Lys683Arg
XM_005246111.3:c.2048A>G	XP_005246168.1:p.Lys683Arg
XM_006712824.2:c.2048A>G	XP_006712887.1:p.Lys683Arg
XM_005246111.4:c.2048A>G	XP_005246168.1:p.Lys683Arg
XM_006712824.4:c.2048A>G	XP_006712887.1:p.Lys683Arg
NM_022817.3:c.2048A>G MANE Select	NP_073728.1:p.Lys683Arg