Canonical Allele Identifier: CA2901424

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 239593
• ClinVar RCV Id: RCV000226754 ; RCV000565614 ; RCV000587639 ; RCV000479524
• dbSNP Id: rs17879189
• ExAC: 4:41747992 TGCCGCCGCTGCCGCTGCCGCC / T
• gnomAD v2: 4-41747992-TGCCGCCGCTGCCGCTGCCGCC-T
• gnomAD v3: 4-41745975-TGCCGCCGCTGCCGCTGCCGCC-T
• gnomAD v4: 4-41745975-TGCCGCCGCTGCCGCTGCCGCC-T
• MyVariant Identifiers: chr4:g.41747993_41748013del (hg19) ; chr4:g.41748007_41748031delinsGGCC (hg19) ; chr4:g.41748007_41748034delinsGGCCGCC (hg19) ; chr4:g.41745977_41745997del (hg38) ; chr4:g.41745976_41745996del (hg38) ; chr4:g.41745990_41746014delinsGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745990_41746010del , CM000666.2:g.41745990_41746010del	GRCh38
NC_000004.11:g.41748007_41748027del , CM000666.1:g.41748007_41748027del	GRCh37
NC_000004.10:g.41442764_41442784del	NCBI36
NG_008243.1:g.7975_7995del , LRG_513:g.7975_7995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.756_776del MANE Select	ENSP00000226382.2:p.Ala253_Ala259del
ENST00000226382.3:c.756_776del	ENSP00000226382.2:p.Ala253_Ala259del
NM_003924.3:c.756_776del , LRG_513t1:c.756_776del	NP_003915.2:p.Ala253_Ala259del
NM_003924.4:c.756_776del MANE Select	NP_003915.2:p.Ala253_Ala259del