Description
Usher syndrome 2A (autosomal recessive, mild) [Source:HGNC Symbol;Acc:12601]
Gene Synonyms
RP39, US2, USH2, dJ1111A8.1
Location
Chromosome 1: 215,796,236-216,596,738 reverse strand.
GRCh37:CM000663.1
About this gene
This gene has 5 transcripts (splice variants), 11 paralogues and is associated with 5 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000366943.2 | USH2A-201 | 18955 | 5226aa | ENSP00000355910.2 | Protein coding | O75445 | - | GENCODE basic, | |
ENST00000307340.3 | USH2A-002 | 18883 | 5202aa | ENSP00000305941.3 | Protein coding | CCDS31025 | O75445 | NM_206933.2 | GENCODE basic, |
ENST00000366942.3 | USH2A-001 | 6320 | 1546aa | ENSP00000355909.3 | Protein coding | CCDS1516 | O75445 | NM_007123.5 | GENCODE basic, |
ENST00000481786.1 | USH2A-003 | 626 | No protein | - | Retained intron | - | - | - | |
ENST00000463147.1 | USH2A-004 | 618 | No protein | - | Retained intron | - | - | - |