Canonical Allele Identifier: CA356737056
Gene: PHOX2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745923G>A , CM000666.2:g.41745923G>A GRCh38
NC_000004.11:g.41747940G>A , CM000666.1:g.41747940G>A GRCh37
NC_000004.10:g.41442697G>A NCBI36
NG_008243.1:g.8048C>T , LRG_513:g.8048C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.829C>T MANE Select ENSP00000226382.2:p.Pro277Ser
ENST00000226382.3:c.829C>T ENSP00000226382.2:p.Pro277Ser
NM_003924.3:c.829C>T , LRG_513t1:c.829C>T NP_003915.2:p.Pro277Ser
NM_003924.4:c.829C>T MANE Select NP_003915.2:p.Pro277Ser