Canonical Allele Identifier: CA11242356

Gene: PER2

Linked Data

• dbSNP Id: rs6754875
• gnomAD v2: 2-239193219-A-C
• gnomAD v3: 2-238284578-A-C
• gnomAD v4: 2-238284578-A-C
• MyVariant Identifiers: chr2:g.239193219A>C (hg19) ; chr2:g.238284578A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238284578A>C , CM000664.2:g.238284578A>C	GRCh38
NC_000002.11:g.239193219A>C , CM000664.1:g.239193219A>C	GRCh37
NC_000002.10:g.238857958A>C	NCBI36
NG_012146.1:g.8989T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707129.1:c.-20+3771T>G	ENSP00000516757.1:n.-20+3771T>G
ENST00000707130.1:c.-20+4066T>G	ENSP00000516758.1:n.-20+4066T>G
ENST00000254657.8:c.-20+3771T>G MANE Select	ENSP00000254657.3:n.-20+3771T>G
ENST00000254657.7:c.-20+3771T>G	ENSP00000254657.3:n.-20+3771T>G
ENST00000431832.1:c.-20+5321T>G	ENSP00000405891.1:n.-20+5321T>G
NM_022817.2:c.-20+3771T>G	NP_073728.1:n.-20+3771T>G
XM_005246111.3:c.-20+5321T>G	XP_005246168.1:n.-20+5321T>G
XM_006712824.2:c.-20+4066T>G	XP_006712887.1:n.-20+4066T>G
XM_005246111.4:c.-20+5321T>G	XP_005246168.1:n.-20+5321T>G
XM_006712824.4:c.-20+4066T>G	XP_006712887.1:n.-20+4066T>G
NM_022817.3:c.-20+3771T>G MANE Select	NP_073728.1:n.-20+3771T>G