Canonical Allele Identifier: CA2197191

Gene: PER2

Linked Data

• dbSNP Id: rs754336302
• ExAC: 2:239165530 ACTGCTCT / A
• gnomAD v2: 2-239165530-ACTGCTCT-A
• gnomAD v3: 2-238256889-ACTGCTCT-A
• gnomAD v4: 2-238256889-ACTGCTCT-A
• MyVariant Identifiers: chr2:g.239165531_239165537del (hg19) ; chr2:g.238256891_238256897del (hg38) ; chr2:g.238256890_238256896del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238256893_238256899del , CM000664.2:g.238256893_238256899del	GRCh38
NC_000002.11:g.239165534_239165540del , CM000664.1:g.239165534_239165540del	GRCh37
NC_000002.10:g.238830273_238830279del	NCBI36
NG_012146.1:g.36671_36677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707129.1:c.2065+26_2065+32del	ENSP00000516757.1:n.2065+26_2065+32del
ENST00000707130.1:c.2065+26_2065+32del	ENSP00000516758.1:n.2065+26_2065+32del
ENST00000254657.8:c.2065+26_2065+32del MANE Select	ENSP00000254657.3:n.2065+26_2065+32del
ENST00000254657.7:c.2065+26_2065+32del	ENSP00000254657.3:n.2065+26_2065+32del
NM_022817.2:c.2065+26_2065+32del	NP_073728.1:n.2065+26_2065+32del
XM_005246111.3:c.2065+26_2065+32del	XP_005246168.1:n.2065+26_2065+32del
XM_006712824.2:c.2065+26_2065+32del	XP_006712887.1:n.2065+26_2065+32del
XM_005246111.4:c.2065+26_2065+32del	XP_005246168.1:n.2065+26_2065+32del
XM_006712824.4:c.2065+26_2065+32del	XP_006712887.1:n.2065+26_2065+32del
NM_022817.3:c.2065+26_2065+32del MANE Select	NP_073728.1:n.2065+26_2065+32del