Canonical Allele Identifier: CA2670427209
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs2153112829
gnomAD v4: 4-41746381-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746381G>A , CM000666.2:g.41746381G>A GRCh38
NC_000004.11:g.41748398G>A , CM000666.1:g.41748398G>A GRCh37
NC_000004.10:g.41443155G>A NCBI36
NG_008243.1:g.7590C>T , LRG_513:g.7590C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.430-59C>T MANE Select ENSP00000226382.2:n.430-59C>T
ENST00000226382.3:c.430-59C>T ENSP00000226382.2:n.430-59C>T
ENST00000510424.2:n.251-59C>T
NM_003924.3:c.430-59C>T , LRG_513t1:c.430-59C>T NP_003915.2:n.430-59C>T
NM_003924.4:c.430-59C>T MANE Select NP_003915.2:n.430-59C>T
Search 100 bp 5'
Search 100 bp 3'