Canonical Allele Identifier: CA95828479

Gene: PHOX2B

Linked Data

• dbSNP Id: rs528100239
• MyVariant Identifiers: chr4:g.41748036_41748037insG (hg19) ; chr4:g.41746019_41746020insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746019_41746020insG , CM000666.2:g.41746019_41746020insG	GRCh38
NC_000004.11:g.41748036_41748037insG , CM000666.1:g.41748036_41748037insG	GRCh37
NC_000004.10:g.41442793_41442794insG	NCBI36
NG_008243.1:g.7951_7952insC , LRG_513:g.7951_7952insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.732_733insC MANE Select	ENSP00000226382.2:p.Ala245ArgfsTer?
ENST00000226382.3:c.732_733insC	ENSP00000226382.2:p.Ala245ArgfsTer?
NM_003924.3:c.732_733insC , LRG_513t1:c.732_733insC	NP_003915.2:p.Ala245ArgfsTer?
NM_003924.4:c.732_733insC MANE Select	NP_003915.2:p.Ala245ArgfsTer?