Canonical Allele Identifier: CA2901433

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 467741
• ClinVar RCV Id: RCV000534311 ; RCV003915570 ; RCV003884618
• dbSNP Id: rs757850760
• ExAC: 4:41748001 TGCCGCTGCCGCCGCCGCCGCTGCCGCGGCCGCC / T
• gnomAD v2: 4-41748001-TGCCGCTGCCGCCGCCGCCGCTGCCGCGGCCGCC-T
• gnomAD v3: 4-41745984-TGCCGCTGCCGCCGCCGCCGCTGCCGCGGCCGCC-T
• gnomAD v4: 4-41745984-TGCCGCTGCCGCCGCCGCCGCTGCCGCGGCCGCC-T
• MyVariant Identifiers: chr4:g.41748002_41748034del (hg19) ; chr4:g.41745985_41746017del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745993_41746025del , CM000666.2:g.41745993_41746025del	GRCh38
NC_000004.11:g.41748010_41748042del , CM000666.1:g.41748010_41748042del	GRCh37
NC_000004.10:g.41442767_41442799del	NCBI36
NG_008243.1:g.7954_7986del , LRG_513:g.7954_7986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.735_767del MANE Select	ENSP00000226382.2:p.Ala246_Ala256del
ENST00000226382.3:c.735_767del	ENSP00000226382.2:p.Ala246_Ala256del
NM_003924.3:c.735_767del , LRG_513t1:c.735_767del	NP_003915.2:p.Ala246_Ala256del
NM_003924.4:c.735_767del MANE Select	NP_003915.2:p.Ala246_Ala256del