Canonical Allele Identifier: CA2197762

Gene: PER2

Linked Data

• dbSNP Id: rs765518231
• ExAC: 2:239181808 A / T
• gnomAD v2: 2-239181808-A-T
• gnomAD v4: 2-238273167-A-T
• MyVariant Identifiers: chr2:g.239181808A>T (hg19) ; chr2:g.238273167A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238273167A>T , CM000664.2:g.238273167A>T	GRCh38
NC_000002.11:g.239181808A>T , CM000664.1:g.239181808A>T	GRCh37
NC_000002.10:g.238846547A>T	NCBI36
NG_012146.1:g.20400T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707129.1:c.473T>A	ENSP00000516757.1:p.Leu158Gln
ENST00000707130.1:c.473T>A	ENSP00000516758.1:p.Leu158Gln
ENST00000254657.8:c.473T>A MANE Select	ENSP00000254657.3:p.Leu158Gln
ENST00000254657.7:c.473T>A	ENSP00000254657.3:p.Leu158Gln
ENST00000355768.6:c.473T>A	ENSP00000348013.2:p.Leu158Gln
NM_022817.2:c.473T>A	NP_073728.1:p.Leu158Gln
XM_005246111.3:c.473T>A	XP_005246168.1:p.Leu158Gln
XM_006712824.2:c.473T>A	XP_006712887.1:p.Leu158Gln
XM_005246111.4:c.473T>A	XP_005246168.1:p.Leu158Gln
XM_006712824.4:c.473T>A	XP_006712887.1:p.Leu158Gln
NM_022817.3:c.473T>A MANE Select	NP_073728.1:p.Leu158Gln