Canonical Allele Identifier: CA67985481

Gene: PER2

Linked Data

• dbSNP Id: rs142278108
• gnomAD v4: 2-238273069-C-T
• MyVariant Identifiers: chr2:g.239181710C>T (hg19) ; chr2:g.238273069C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238273069C>T , CM000664.2:g.238273069C>T	GRCh38
NC_000002.11:g.239181710C>T , CM000664.1:g.239181710C>T	GRCh37
NC_000002.10:g.238846449C>T	NCBI36
NG_012146.1:g.20498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707129.1:c.570+1G>A	ENSP00000516757.1:n.570+1G>A
ENST00000707130.1:c.570+1G>A	ENSP00000516758.1:n.570+1G>A
ENST00000254657.8:c.570+1G>A MANE Select	ENSP00000254657.3:n.570+1G>A
ENST00000254657.7:c.570+1G>A	ENSP00000254657.3:n.570+1G>A
ENST00000355768.6:c.570+1G>A	ENSP00000348013.2:n.570+1G>A
NM_022817.2:c.570+1G>A	NP_073728.1:n.570+1G>A
XM_005246111.3:c.570+1G>A	XP_005246168.1:n.570+1G>A
XM_006712824.2:c.570+1G>A	XP_006712887.1:n.570+1G>A
XM_005246111.4:c.570+1G>A	XP_005246168.1:n.570+1G>A
XM_006712824.4:c.570+1G>A	XP_006712887.1:n.570+1G>A
NM_022817.3:c.570+1G>A MANE Select	NP_073728.1:n.570+1G>A