Canonical Allele Identifier: CA2497074307
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs1733881124
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746010_41746011insTGC , CM000666.2:g.41746010_41746011insTGC GRCh38
NC_000004.11:g.41748027_41748028insTGC , CM000666.1:g.41748027_41748028insTGC GRCh37
NC_000004.10:g.41442784_41442785insTGC NCBI36
NG_008243.1:g.7962_7963insAGC , LRG_513:g.7962_7963insAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.743_744insAGC MANE Select ENSP00000226382.2:p.Ala248_Ala249insAla
ENST00000226382.3:c.743_744insAGC ENSP00000226382.2:p.Ala248_Ala249insAla
NM_003924.3:c.743_744insAGC , LRG_513t1:c.743_744insAGC NP_003915.2:p.Ala248_Ala249insAla
NM_003924.4:c.743_744insAGC MANE Select NP_003915.2:p.Ala248_Ala249insAla
Search 100 bp 5'
Search 100 bp 3'