Canonical Allele Identifier: CA356738734
Gene: PHOX2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746289T>A , CM000666.2:g.41746289T>A GRCh38
NC_000004.11:g.41748306T>A , CM000666.1:g.41748306T>A GRCh37
NC_000004.10:g.41443063T>A NCBI36
NG_008243.1:g.7682A>T , LRG_513:g.7682A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.463A>T MANE Select ENSP00000226382.2:p.Lys155Ter
ENST00000226382.3:c.463A>T ENSP00000226382.2:p.Lys155Ter
ENST00000510424.2:n.284A>T
NM_003924.3:c.463A>T , LRG_513t1:c.463A>T NP_003915.2:p.Lys155Ter
NM_003924.4:c.463A>T MANE Select NP_003915.2:p.Lys155Ter