Canonical Allele Identifier: CA344851249
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1053293
ClinVar RCV Id: RCV001361618
dbSNP Id: rs531504195
MyVariant Identifiers: chr1:g.215848925A>T (hg19) chr1:g.215675583A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675583A>T , CM000663.2:g.215675583A>T GRCh38
NC_000001.10:g.215848925A>T , CM000663.1:g.215848925A>T GRCh37
NC_000001.9:g.213915548A>T NCBI36
NG_009497.1:g.752814T>A
NG_009497.2:g.752866T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12328T>A MANE Select ENSP00000305941.3:p.Tyr4110Asn
ENST00000674083.1:c.12328T>A ENSP00000501296.1:p.Tyr4110Asn
ENST00000307340.7:c.12328T>A ENSP00000305941.3:p.Tyr4110Asn
NM_206933.2:c.12328T>A NP_996816.2:p.Tyr4110Asn
NM_206933.3:c.12328T>A NP_996816.2:p.Tyr4110Asn
NM_206933.4:c.12328T>A MANE Select NP_996816.3:p.Tyr4110Asn
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Search 100 bp 3'