Canonical Allele Identifier: CA37427993
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1392449
ClinVar RCV Id: RCV001911262 RCV003389502 RCV003452070
dbSNP Id: rs36108227
MyVariant Identifiers: chr1:g.215990371del (hg19) chr1:g.215817029del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817029del , CM000663.2:g.215817029del GRCh38
NC_000001.10:g.215990371del , CM000663.1:g.215990371del GRCh37
NC_000001.9:g.214056994del NCBI36
NG_009497.1:g.611368del
NG_009497.2:g.611420del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9538del MANE Select ENSP00000305941.3:p.Cys3180ValfsTer?
ENST00000674083.1:c.9538del ENSP00000501296.1:p.Cys3180ValfsTer?
ENST00000307340.7:c.9538del ENSP00000305941.3:p.Cys3180ValfsTer?
NM_206933.2:c.9538del NP_996816.2:p.Cys3180ValfsTer?
NM_206933.3:c.9538del NP_996816.2:p.Cys3180ValfsTer?
NM_206933.4:c.9538del MANE Select NP_996816.3:p.Cys3180ValfsTer?
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Search 100 bp 3'