Canonical Allele Identifier: CA2901427

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 413924
• ClinVar RCV Id: RCV000463585
• dbSNP Id: rs778840671
• ExAC: 4:41747995 CGCCGCTGCCGCTGCCGCCGCCGCCGCT / C
• gnomAD v2: 4-41747995-CGCCGCTGCCGCTGCCGCCGCCGCCGCT-C
• gnomAD v3: 4-41745978-CGCCGCTGCCGCTGCCGCCGCCGCCGCT-C
• gnomAD v4: 4-41745978-CGCCGCTGCCGCTGCCGCCGCCGCCGCT-C
• MyVariant Identifiers: chr4:g.41747996_41748022del (hg19) ; chr4:g.41745979_41746005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745984_41746010del , CM000666.2:g.41745984_41746010del	GRCh38
NC_000004.11:g.41748001_41748027del , CM000666.1:g.41748001_41748027del	GRCh37
NC_000004.10:g.41442758_41442784del	NCBI36
NG_008243.1:g.7966_7992del , LRG_513:g.7966_7992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.747_773del MANE Select	ENSP00000226382.2:p.Ala250_Ala258del
ENST00000226382.3:c.747_773del	ENSP00000226382.2:p.Ala250_Ala258del
NM_003924.3:c.747_773del , LRG_513t1:c.747_773del	NP_003915.2:p.Ala250_Ala258del
NM_003924.4:c.747_773del MANE Select	NP_003915.2:p.Ala250_Ala258del