Canonical Allele Identifier: CA2901463

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 1516514
• ClinVar RCV Id: RCV002026653 ; RCV002361403
• dbSNP Id: rs760638643
• ExAC: 4:41748118 CCCG / C
• gnomAD v2: 4-41748118-CCCG-C
• gnomAD v3: 4-41746101-CCCG-C
• gnomAD v4: 4-41746101-CCCG-C
• MyVariant Identifiers: chr4:g.41748119_41748121del (hg19) ; chr4:g.41746103_41746105del (hg38) ; chr4:g.41746102_41746104del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746113_41746115del , CM000666.2:g.41746113_41746115del	GRCh38
NC_000004.11:g.41748130_41748132del , CM000666.1:g.41748130_41748132del	GRCh37
NC_000004.10:g.41442887_41442889del	NCBI36
NG_008243.1:g.7867_7869del , LRG_513:g.7867_7869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.648_650del MANE Select	ENSP00000226382.2:p.Gly217del
ENST00000226382.3:c.648_650del	ENSP00000226382.2:p.Gly217del
ENST00000510424.2:n.469_471del
NM_003924.3:c.648_650del , LRG_513t1:c.648_650del	NP_003915.2:p.Gly217del
NM_003924.4:c.648_650del MANE Select	NP_003915.2:p.Gly217del