INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
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 |
|---|---|
| NM_003924.4:c.227G>C (PHOX2B) MANE Select | NP_003915.2:p.Ser76Thr |
| ENST00000226382.4:c.227G>C (PHOX2B) MANE Select | ENSP00000226382.2:p.Ser76Thr |
| NM_003924.3:c.227G>C , LRG_513t1:c.227G>C (PHOX2B) | NP_003915.2:p.Ser76Thr |
| ENST00000226382.3:c.227G>C (PHOX2B) | ENSP00000226382.2: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) |