Canonical Allele Identifier: CA356738153
Gene: PHOX2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746200G>T , CM000666.2:g.41746200G>T GRCh38
NC_000004.11:g.41748217G>T , CM000666.1:g.41748217G>T GRCh37
NC_000004.10:g.41442974G>T NCBI36
NG_008243.1:g.7771C>A , LRG_513:g.7771C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.552C>A MANE Select ENSP00000226382.2:p.Ser184Arg
ENST00000226382.3:c.552C>A ENSP00000226382.2:p.Ser184Arg
ENST00000510424.2:n.373C>A
NM_003924.3:c.552C>A , LRG_513t1:c.552C>A NP_003915.2:p.Ser184Arg
NM_003924.4:c.552C>A MANE Select NP_003915.2:p.Ser184Arg