Canonical Allele Identifier: CA356737438
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2778902
ClinVar RCV Id: RCV003633771

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746079C>G , CM000666.2:g.41746079C>G GRCh38
NC_000004.11:g.41748096C>G , CM000666.1:g.41748096C>G GRCh37
NC_000004.10:g.41442853C>G NCBI36
NG_008243.1:g.7892G>C , LRG_513:g.7892G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.673G>C MANE Select ENSP00000226382.2:p.Gly225Arg
ENST00000226382.3:c.673G>C ENSP00000226382.2:p.Gly225Arg
ENST00000510424.2:n.494G>C
NM_003924.3:c.673G>C , LRG_513t1:c.673G>C NP_003915.2:p.Gly225Arg
NM_003924.4:c.673G>C MANE Select NP_003915.2:p.Gly225Arg