Canonical Allele Identifier: CA2901405

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 467751
• ClinVar RCV Id: RCV000555778 ; RCV003476290 ; RCV001017548
• dbSNP Id: rs752879767
• ExAC: 4:41747931 T / TGGGGCC
• gnomAD v2: 4-41747931-T-TGGGGCC
• gnomAD v4: 4-41745914-T-TGGGGCC
• MyVariant Identifiers: chr4:g.41747932_41747937dup (hg19) ; chr4:g.41747931_41747932insGGGGCC (hg19) ; chr4:g.41745915_41745920dup (hg38) ; chr4:g.41745914_41745915insGGGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745924_41745929dup , CM000666.2:g.41745924_41745929dup	GRCh38
NC_000004.11:g.41747941_41747946dup , CM000666.1:g.41747941_41747946dup	GRCh37
NC_000004.10:g.41442698_41442703dup	NCBI36
NG_008243.1:g.8051_8056dup , LRG_513:g.8051_8056dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.832_837dup MANE Select	ENSP00000226382.2:p.Pro279_Ile280insGlyPro
ENST00000226382.3:c.832_837dup	ENSP00000226382.2:p.Pro279_Ile280insGlyPro
NM_003924.3:c.832_837dup , LRG_513t1:c.832_837dup	NP_003915.2:p.Pro279_Ile280insGlyPro
NM_003924.4:c.832_837dup MANE Select	NP_003915.2:p.Pro279_Ile280insGlyPro