Canonical Allele Identifier: CA371557047

Gene: PEX2

Linked Data

• ClinVar Variation Id: 1376196
• ClinVar RCV Id: RCV001911953
• dbSNP Id: rs2132043654
• MyVariant Identifiers: chr8:g.77895842C>G (hg19) ; chr8:g.76983606C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983606C>G , CM000670.2:g.76983606C>G	GRCh38
NC_000008.10:g.77895842C>G , CM000670.1:g.77895842C>G	GRCh37
NC_000008.9:g.78058397C>G	NCBI36
NG_008371.1:g.21683G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.573G>C MANE Select	ENSP00000349543.4:p.Met191Ile
ENST00000357039.8:c.573G>C	ENSP00000349543.4:p.Met191Ile
ENST00000520103.5:c.573G>C	ENSP00000428590.1:p.Met191Ile
ENST00000522527.5:c.573G>C	ENSP00000428638.1:p.Met191Ile
NM_000318.2:c.573G>C	NP_000309.1:p.Met191Ile
NM_001079867.1:c.573G>C	NP_001073336.1:p.Met191Ile
NM_001172086.1:c.573G>C	NP_001165557.1:p.Met191Ile
NM_001172087.1:c.573G>C	NP_001165558.1:p.Met191Ile
NM_000318.3:c.573G>C MANE Select	NP_000309.2:p.Met191Ile
NM_001079867.2:c.573G>C	NP_001073336.2:p.Met191Ile
NM_001172086.2:c.573G>C	NP_001165557.2:p.Met191Ile
NM_001172087.2:c.573G>C	NP_001165558.2:p.Met191Ile