Canonical Allele Identifier: CA2901598

Gene: PHOX2B PHOX2B-AS1

Linked Data

• ClinVar Variation Id: 486030
• ClinVar RCV Id: RCV000565021 ; RCV000643944 ; RCV000764535 ; RCV002510925 ; RCV003471903 ; RCV003945354
• dbSNP Id: rs532711949
• ExAC: 4:41750401 C / G
• gnomAD v2: 4-41750401-C-G
• gnomAD v3: 4-41748384-C-G
• gnomAD v4: 4-41748384-C-G
• MyVariant Identifiers: chr4:g.41750401C>G (hg19) ; chr4:g.41748384C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41748384C>G , CM000666.2:g.41748384C>G	GRCh38
NC_000004.11:g.41750401C>G , CM000666.1:g.41750401C>G	GRCh37
NC_000004.10:g.41445158C>G	NCBI36
NG_008243.1:g.5587G>C , LRG_513:g.5587G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.227G>C (PHOX2B) MANE Select	ENSP00000226382.2:p.Ser76Thr
ENST00000226382.3:c.227G>C (PHOX2B)	ENSP00000226382.2:p.Ser76Thr
NM_003924.3:c.227G>C , LRG_513t1:c.227G>C (PHOX2B)	NP_003915.2:p.Ser76Thr
XR_001741668.1:n.92C>G (PHOX2B-AS1)
XR_001741669.1:n.92C>G (PHOX2B-AS1)
XR_001741670.1:n.92C>G (PHOX2B-AS1)
XR_001741671.1:n.92C>G (PHOX2B-AS1)
XR_925256.2:n.92C>G (PHOX2B-AS1)
NM_003924.4:c.227G>C (PHOX2B) MANE Select	NP_003915.2:p.Ser76Thr