Canonical Allele Identifier: CA1043881419

Gene: PER2

Linked Data

• gnomAD v3: 2-238273498-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGTTTTTTTT
• gnomAD v4: 2-238273498-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.238273512_238273513insTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGTTTTTTTTTTTTTTTTTTTTTT , CM000664.2:g.238273512_238273513insTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000002.11:g.239182153_239182154insTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGTTTTTTTTTTTTTTTTTTTTTT , CM000664.1:g.239182153_239182154insTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000002.10:g.238846892_238846893insTTTTTTTTTTTTTTTTTTTTTTTTTTTCTAGTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_012146.1:g.20068_20069insAAAAAAAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707129.1:c.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000516757.1:n.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAA...
ENST00000707130.1:c.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000516758.1:n.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAA...
ENST00000254657.8:c.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000254657.3:n.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAA...
ENST00000254657.7:c.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000254657.3:n.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAA...
ENST00000355768.6:c.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000348013.2:n.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAA...
NM_022817.2:c.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_073728.1:n.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAA...
XM_005246111.3:c.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005246168.1:n.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAA...
XM_006712824.2:c.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_006712887.1:n.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAA...
XM_005246111.4:c.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005246168.1:n.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAA...
XM_006712824.4:c.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_006712887.1:n.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAA...
NM_022817.3:c.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_073728.1:n.449-308_449-307insAAAAAAAACTAGAAAAAAAAAAAAAAAAA...