Canonical Allele Identifier: CA4788648

Gene: PEX2

Linked Data

• dbSNP Id: rs763631429
• ExAC: 8:77895596 TAAG / T
• gnomAD v2: 8-77895596-TAAG-T
• gnomAD v4: 8-76983360-TAAG-T
• MyVariant Identifiers: chr8:g.77895597_77895599del (hg19) ; chr8:g.76983361_76983363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983363_76983365del , CM000670.2:g.76983363_76983365del	GRCh38
NC_000008.10:g.77895599_77895601del , CM000670.1:g.77895599_77895601del	GRCh37
NC_000008.9:g.78058154_78058156del	NCBI36
NG_008371.1:g.21926_21928del

Transcript Alleles

HGVS	Amino-acid change
ENST00000357039.9:c.816_818del MANE Select	ENSP00000349543.4:p.Phe272del
ENST00000357039.8:c.816_818del	ENSP00000349543.4:p.Phe272del
ENST00000520103.5:c.816_818del	ENSP00000428590.1:p.Phe272del
ENST00000522527.5:c.816_818del	ENSP00000428638.1:p.Phe272del
NM_000318.2:c.816_818del	NP_000309.1:p.Phe272del
NM_001079867.1:c.816_818del	NP_001073336.1:p.Phe272del
NM_001172086.1:c.816_818del	NP_001165557.1:p.Phe272del
NM_001172087.1:c.816_818del	NP_001165558.1:p.Phe272del
NM_000318.3:c.816_818del MANE Select	NP_000309.2:p.Phe272del
NM_001079867.2:c.816_818del	NP_001073336.2:p.Phe272del
NM_001172086.2:c.816_818del	NP_001165557.2:p.Phe272del
NM_001172087.2:c.816_818del	NP_001165558.2:p.Phe272del