Canonical Allele Identifier: CA344849716
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1298452
ClinVar RCV Id: RCV001726782
dbSNP Id: rs2102666455
MyVariant Identifiers: chr1:g.215848547A>T (hg19) chr1:g.215675205A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675205A>T , CM000663.2:g.215675205A>T GRCh38
NC_000001.10:g.215848547A>T , CM000663.1:g.215848547A>T GRCh37
NC_000001.9:g.213915170A>T NCBI36
NG_009497.1:g.753192T>A
NG_009497.2:g.753244T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12706T>A MANE Select ENSP00000305941.3:p.Cys4236Ser
ENST00000674083.1:c.12706T>A ENSP00000501296.1:p.Cys4236Ser
ENST00000307340.7:c.12706T>A ENSP00000305941.3:p.Cys4236Ser
NM_206933.2:c.12706T>A NP_996816.2:p.Cys4236Ser
NM_206933.3:c.12706T>A NP_996816.2:p.Cys4236Ser
NM_206933.4:c.12706T>A MANE Select NP_996816.3:p.Cys4236Ser
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