Canonical Allele Identifier: CA2747719139
Gene: USH2A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728496_215728503del , CM000663.2:g.215728496_215728503del GRCh38
NC_000001.10:g.215901838_215901845del , CM000663.1:g.215901838_215901845del GRCh37
NC_000001.9:g.213968461_213968468del NCBI36
NG_009497.1:g.699894_699901del
NG_009497.2:g.699946_699953del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-119_11712-112del MANE Select ENSP00000305941.3:n.11712-119_11712-112del
ENST00000674083.1:c.11712-119_11712-112del ENSP00000501296.1:n.11712-119_11712-112del
ENST00000307340.7:c.11712-119_11712-112del ENSP00000305941.3:n.11712-119_11712-112del
NM_206933.2:c.11712-119_11712-112del NP_996816.2:n.11712-119_11712-112del
NM_206933.3:c.11712-119_11712-112del NP_996816.2:n.11712-119_11712-112del
NM_206933.4:c.11712-119_11712-112del MANE Select NP_996816.3:n.11712-119_11712-112del
Search 100 bp 5'
Search 100 bp 3'