Canonical Allele Identifier: CA2901407

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 239596
• ClinVar RCV Id: RCV000229358 ; RCV001017576 ; RCV001391323 ; RCV001145118 ; RCV003919957 ; RCV001753699
• dbSNP Id: rs138545772
• ExAC: 4:41747937 C / T
• gnomAD v2: 4-41747937-C-T
• gnomAD v3: 4-41745920-C-T
• gnomAD v4: 4-41745920-C-T
• MyVariant Identifiers: chr4:g.41747937C>T (hg19) ; chr4:g.41745920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745920C>T , CM000666.2:g.41745920C>T	GRCh38
NC_000004.11:g.41747937C>T , CM000666.1:g.41747937C>T	GRCh37
NC_000004.10:g.41442694C>T	NCBI36
NG_008243.1:g.8051G>A , LRG_513:g.8051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.832G>A MANE Select	ENSP00000226382.2:p.Gly278Ser
ENST00000226382.3:c.832G>A	ENSP00000226382.2:p.Gly278Ser
NM_003924.3:c.832G>A , LRG_513t1:c.832G>A	NP_003915.2:p.Gly278Ser
NM_003924.4:c.832G>A MANE Select	NP_003915.2:p.Gly278Ser