Canonical Allele Identifier: CA2499214464
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1076393
ClinVar RCV Id: RCV001390299
dbSNP Id: rs2102713688
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728280_215728281dup , CM000663.2:g.215728280_215728281dup GRCh38
NC_000001.10:g.215901622_215901623dup , CM000663.1:g.215901622_215901623dup GRCh37
NC_000001.9:g.213968245_213968246dup NCBI36
NG_009497.1:g.700116_700117dup
NG_009497.2:g.700168_700169dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11815_11816dup MANE Select ENSP00000305941.3:p.Tyr3940AsnfsTer19
ENST00000674083.1:c.11815_11816dup ENSP00000501296.1:p.Tyr3940AsnfsTer19
ENST00000307340.7:c.11815_11816dup ENSP00000305941.3:p.Tyr3940AsnfsTer19
NM_206933.2:c.11815_11816dup NP_996816.2:p.Tyr3940AsnfsTer19
NM_206933.3:c.11815_11816dup NP_996816.2:p.Tyr3940AsnfsTer19
NM_206933.4:c.11815_11816dup MANE Select NP_996816.3:p.Tyr3940AsnfsTer19
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Search 100 bp 3'