Canonical Allele Identifier: CA2901603

Gene: PHOX2B PHOX2B-AS1

Linked Data

• ClinVar Variation Id: 467719
• ClinVar RCV Id: RCV000545357 ; RCV001011753 ; RCV003324762 ; RCV003476287
• dbSNP Id: rs559227588
• ExAC: 4:41750482 G / T
• gnomAD v2: 4-41750482-G-T
• gnomAD v3: 4-41748465-G-T
• gnomAD v4: 4-41748465-G-T
• MyVariant Identifiers: chr4:g.41750482G>T (hg19) ; chr4:g.41748465G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41748465G>T , CM000666.2:g.41748465G>T	GRCh38
NC_000004.11:g.41750482G>T , CM000666.1:g.41750482G>T	GRCh37
NC_000004.10:g.41445239G>T	NCBI36
NG_008243.1:g.5506C>A , LRG_513:g.5506C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.146C>A (PHOX2B) MANE Select	ENSP00000226382.2:p.Thr49Asn
ENST00000226382.3:c.146C>A (PHOX2B)	ENSP00000226382.2:p.Thr49Asn
NM_003924.3:c.146C>A , LRG_513t1:c.146C>A (PHOX2B)	NP_003915.2:p.Thr49Asn
XR_001741668.1:n.173G>T (PHOX2B-AS1)
XR_001741669.1:n.173G>T (PHOX2B-AS1)
XR_001741670.1:n.173G>T (PHOX2B-AS1)
XR_001741671.1:n.173G>T (PHOX2B-AS1)
XR_925256.2:n.173G>T (PHOX2B-AS1)
NM_003924.4:c.146C>A (PHOX2B) MANE Select	NP_003915.2:p.Thr49Asn