Canonical Allele Identifier: CA2739270047

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 2846183
• ClinVar RCV Id: RCV003635196

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746273_41746274dup , CM000666.2:g.41746273_41746274dup	GRCh38
NC_000004.11:g.41748290_41748291dup , CM000666.1:g.41748290_41748291dup	GRCh37
NC_000004.10:g.41443047_41443048dup	NCBI36
NG_008243.1:g.7698_7699dup , LRG_513:g.7698_7699dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.479_480dup MANE Select	ENSP00000226382.2:p.Ala161ArgfsTer?
ENST00000226382.3:c.479_480dup	ENSP00000226382.2:p.Ala161ArgfsTer?
ENST00000510424.2:n.300_301dup
NM_003924.3:c.479_480dup , LRG_513t1:c.479_480dup	NP_003915.2:p.Ala161ArgfsTer?
NM_003924.4:c.479_480dup MANE Select	NP_003915.2:p.Ala161ArgfsTer?