Canonical Allele Identifier: CA351264251

Gene: PER2

Linked Data

• dbSNP Id: rs775575594
• gnomAD v2: 2-239181773-C-G
• gnomAD v4: 2-238273132-C-G
• MyVariant Identifiers: chr2:g.239181773C>G (hg19) ; chr2:g.238273132C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238273132C>G , CM000664.2:g.238273132C>G	GRCh38
NC_000002.11:g.239181773C>G , CM000664.1:g.239181773C>G	GRCh37
NC_000002.10:g.238846512C>G	NCBI36
NG_012146.1:g.20435G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707129.1:c.508G>C	ENSP00000516757.1:p.Val170Leu
ENST00000707130.1:c.508G>C	ENSP00000516758.1:p.Val170Leu
ENST00000254657.8:c.508G>C MANE Select	ENSP00000254657.3:p.Val170Leu
ENST00000254657.7:c.508G>C	ENSP00000254657.3:p.Val170Leu
ENST00000355768.6:c.508G>C	ENSP00000348013.2:p.Val170Leu
NM_022817.2:c.508G>C	NP_073728.1:p.Val170Leu
XM_005246111.3:c.508G>C	XP_005246168.1:p.Val170Leu
XM_006712824.2:c.508G>C	XP_006712887.1:p.Val170Leu
XM_005246111.4:c.508G>C	XP_005246168.1:p.Val170Leu
XM_006712824.4:c.508G>C	XP_006712887.1:p.Val170Leu
NM_022817.3:c.508G>C MANE Select	NP_073728.1:p.Val170Leu