Canonical Allele Identifier: CA356737963
Gene: PHOX2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746183G>C , CM000666.2:g.41746183G>C GRCh38
NC_000004.11:g.41748200G>C , CM000666.1:g.41748200G>C GRCh37
NC_000004.10:g.41442957G>C NCBI36
NG_008243.1:g.7788C>G , LRG_513:g.7788C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.569C>G MANE Select ENSP00000226382.2:p.Thr190Ser
ENST00000226382.3:c.569C>G ENSP00000226382.2:p.Thr190Ser
ENST00000510424.2:n.390C>G
NM_003924.3:c.569C>G , LRG_513t1:c.569C>G NP_003915.2:p.Thr190Ser
NM_003924.4:c.569C>G MANE Select NP_003915.2:p.Thr190Ser