Canonical Allele Identifier: CA766681855

Gene: PER2

Linked Data

• dbSNP Id: rs1257249535
• gnomAD v3: 2-238256954-T-TG
• gnomAD v4: 2-238256954-T-TG
• MyVariant Identifiers: chr2:g.239165595_239165596insG (hg19) ; chr2:g.238256954_238256955insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238256956dup , CM000664.2:g.238256956dup	GRCh38
NC_000002.11:g.239165597dup , CM000664.1:g.239165597dup	GRCh37
NC_000002.10:g.238830336dup	NCBI36
NG_012146.1:g.36612dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707129.1:c.2032dup	ENSP00000516757.1:p.His678ProfsTer?
ENST00000707130.1:c.2032dup	ENSP00000516758.1:p.His678ProfsTer?
ENST00000254657.8:c.2032dup MANE Select	ENSP00000254657.3:p.His678ProfsTer?
ENST00000254657.7:c.2032dup	ENSP00000254657.3:p.His678ProfsTer?
NM_022817.2:c.2032dup	NP_073728.1:p.His678ProfsTer?
XM_005246111.3:c.2032dup	XP_005246168.1:p.His678ProfsTer?
XM_006712824.2:c.2032dup	XP_006712887.1:p.His678ProfsTer?
XM_005246111.4:c.2032dup	XP_005246168.1:p.His678ProfsTer?
XM_006712824.4:c.2032dup	XP_006712887.1:p.His678ProfsTer?
NM_022817.3:c.2032dup MANE Select	NP_073728.1:p.His678ProfsTer?