Canonical Allele Identifier: CA2197811

Gene: PER2

Linked Data

• dbSNP Id: rs147628529
• ExAC: 2:239184501 G / C
• MyVariant Identifiers: chr2:g.239184501G>C (hg19) ; chr2:g.238275860G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238275860G>C , CM000664.2:g.238275860G>C	GRCh38
NC_000002.11:g.239184501G>C , CM000664.1:g.239184501G>C	GRCh37
NC_000002.10:g.238849240G>C	NCBI36
NG_012146.1:g.17707C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707129.1:c.331C>G	ENSP00000516757.1:p.Leu111Val
ENST00000707130.1:c.331C>G	ENSP00000516758.1:p.Leu111Val
ENST00000254657.8:c.331C>G MANE Select	ENSP00000254657.3:p.Leu111Val
ENST00000254657.7:c.331C>G	ENSP00000254657.3:p.Leu111Val
ENST00000355768.6:c.331C>G	ENSP00000348013.2:p.Leu111Val
NM_022817.2:c.331C>G	NP_073728.1:p.Leu111Val
XM_005246111.3:c.331C>G	XP_005246168.1:p.Leu111Val
XM_006712824.2:c.331C>G	XP_006712887.1:p.Leu111Val
XM_005246111.4:c.331C>G	XP_005246168.1:p.Leu111Val
XM_006712824.4:c.331C>G	XP_006712887.1:p.Leu111Val
NM_022817.3:c.331C>G MANE Select	NP_073728.1:p.Leu111Val