Canonical Allele Identifier: CA351265469

Gene: PER2

Linked Data

• gnomAD v4: 2-238275856-A-C
• MyVariant Identifiers: chr2:g.239184497A>C (hg19) ; chr2:g.238275856A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238275856A>C , CM000664.2:g.238275856A>C	GRCh38
NC_000002.11:g.239184497A>C , CM000664.1:g.239184497A>C	GRCh37
NC_000002.10:g.238849236A>C	NCBI36
NG_012146.1:g.17711T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707129.1:c.335T>G	ENSP00000516757.1:p.Ile112Arg
ENST00000707130.1:c.335T>G	ENSP00000516758.1:p.Ile112Arg
ENST00000254657.8:c.335T>G MANE Select	ENSP00000254657.3:p.Ile112Arg
ENST00000254657.7:c.335T>G	ENSP00000254657.3:p.Ile112Arg
ENST00000355768.6:c.335T>G	ENSP00000348013.2:p.Ile112Arg
NM_022817.2:c.335T>G	NP_073728.1:p.Ile112Arg
XM_005246111.3:c.335T>G	XP_005246168.1:p.Ile112Arg
XM_006712824.2:c.335T>G	XP_006712887.1:p.Ile112Arg
XM_005246111.4:c.335T>G	XP_005246168.1:p.Ile112Arg
XM_006712824.4:c.335T>G	XP_006712887.1:p.Ile112Arg
NM_022817.3:c.335T>G MANE Select	NP_073728.1:p.Ile112Arg