Canonical Allele Identifier: CA2670427134

Gene: PHOX2B

Linked Data

• gnomAD v4: 4-41745948-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745953dup , CM000666.2:g.41745953dup	GRCh38
NC_000004.11:g.41747970dup , CM000666.1:g.41747970dup	GRCh37
NC_000004.10:g.41442727dup	NCBI36
NG_008243.1:g.8022dup , LRG_513:g.8022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.803dup MANE Select	ENSP00000226382.2:p.Gly270TrpfsTer?
ENST00000226382.3:c.803dup	ENSP00000226382.2:p.Gly270TrpfsTer?
NM_003924.3:c.803dup , LRG_513t1:c.803dup	NP_003915.2:p.Gly270TrpfsTer?
NM_003924.4:c.803dup MANE Select	NP_003915.2:p.Gly270TrpfsTer?