Canonical Allele Identifier: CA2901422

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 239595
• ClinVar RCV Id: RCV000226578 ; RCV000563548 ; RCV001705261 ; RCV002494645 ; RCV002229354
• dbSNP Id: rs761018157
• ExAC: 4:41747989 AGCTGCCGCCGCTGCC / A
• gnomAD v2: 4-41747989-AGCTGCCGCCGCTGCC-A
• gnomAD v3: 4-41745972-AGCTGCCGCCGCTGCC-A
• gnomAD v4: 4-41745972-AGCTGCCGCCGCTGCC-A
• MyVariant Identifiers: chr4:g.41747990_41748004del (hg19) ; chr4:g.41748001_41748019delinsCGCC (hg19) ; chr4:g.41745973_41745987del (hg38) ; chr4:g.41745984_41746002delinsCGCC (hg38)
• PubMed: PMID:20208042

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745984_41745998del , CM000666.2:g.41745984_41745998del	GRCh38
NC_000004.11:g.41748001_41748015del , CM000666.1:g.41748001_41748015del	GRCh37
NC_000004.10:g.41442758_41442772del	NCBI36
NG_008243.1:g.7984_7998del , LRG_513:g.7984_7998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.765_779del MANE Select	ENSP00000226382.2:p.Ala256_Ala260del
ENST00000226382.3:c.765_779del	ENSP00000226382.2:p.Ala256_Ala260del
NM_003924.3:c.765_779del , LRG_513t1:c.765_779del	NP_003915.2:p.Ala256_Ala260del
NM_003924.4:c.765_779del MANE Select	NP_003915.2:p.Ala256_Ala260del