Canonical Allele Identifier: CA2586973790

Gene: PHOX2B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745924dup , CM000666.2:g.41745924dup	GRCh38
NC_000004.11:g.41747941dup , CM000666.1:g.41747941dup	GRCh37
NC_000004.10:g.41442698dup	NCBI36
NG_008243.1:g.8050dup , LRG_513:g.8050dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.831dup MANE Select	ENSP00000226382.2:p.Gly278ArgfsTer?
ENST00000226382.3:c.831dup	ENSP00000226382.2:p.Gly278ArgfsTer?
NM_003924.3:c.831dup , LRG_513t1:c.831dup	NP_003915.2:p.Gly278ArgfsTer?
NM_003924.4:c.831dup MANE Select	NP_003915.2:p.Gly278ArgfsTer?