Canonical Allele Identifier: CA2580071020
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1739592
ClinVar RCV Id: RCV002331929
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746329C>T , CM000666.2:g.41746329C>T GRCh38
NC_000004.11:g.41748346C>T , CM000666.1:g.41748346C>T GRCh37
NC_000004.10:g.41443103C>T NCBI36
NG_008243.1:g.7642G>A , LRG_513:g.7642G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.430-7G>A MANE Select ENSP00000226382.2:n.430-7G>A
ENST00000226382.3:c.430-7G>A ENSP00000226382.2:n.430-7G>A
ENST00000510424.2:n.251-7G>A
NM_003924.3:c.430-7G>A , LRG_513t1:c.430-7G>A NP_003915.2:n.430-7G>A
NM_003924.4:c.430-7G>A MANE Select NP_003915.2:n.430-7G>A
Search 100 bp 5'
Search 100 bp 3'