Canonical Allele Identifier: CA461773301
Gene: PEX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.77895776G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76983540G>C , CM000670.2:g.76983540G>C GRCh38
NC_000008.10:g.77895776G>C , CM000670.1:g.77895776G>C GRCh37
NC_000008.9:g.78058331G>C NCBI36
NG_008371.1:g.21749C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357039.9:c.639C>G MANE Select ENSP00000349543.4:p.Val213=
ENST00000357039.8:c.639C>G ENSP00000349543.4:p.Val213=
ENST00000520103.5:c.639C>G ENSP00000428590.1:p.Val213=
ENST00000522527.5:c.639C>G ENSP00000428638.1:p.Val213=
NM_000318.2:c.639C>G NP_000309.1:p.Val213=
NM_001079867.1:c.639C>G NP_001073336.1:p.Val213=
NM_001172086.1:c.639C>G NP_001165557.1:p.Val213=
NM_001172087.1:c.639C>G NP_001165558.1:p.Val213=
NM_000318.3:c.639C>G MANE Select NP_000309.2:p.Val213=
NM_001079867.2:c.639C>G NP_001073336.2:p.Val213=
NM_001172086.2:c.639C>G NP_001165557.2:p.Val213=
NM_001172087.2:c.639C>G NP_001165558.2:p.Val213=