Canonical Allele Identifier: CA143566
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48566
ClinVar RCV Id: RCV000041892 RCV000923089 RCV001826600 RCV003450878 RCV003888403
dbSNP Id: rs117461552
ExAC: 1:216166484 A / T
gnomAD v2: 1-216166484-A-T
gnomAD v3: 1-215993142-A-T
gnomAD v4: 1-215993142-A-T
MyVariant Identifiers: chr1:g.216166484A>T (hg19) chr1:g.215993142A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215993142A>T , CM000663.2:g.215993142A>T GRCh38
NC_000001.10:g.216166484A>T , CM000663.1:g.216166484A>T GRCh37
NC_000001.9:g.214233107A>T NCBI36
NG_009497.1:g.435255T>A
NG_009497.2:g.435307T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.6683T>A MANE Select ENSP00000305941.3:p.Val2228Glu
ENST00000674083.1:c.6683T>A ENSP00000501296.1:p.Val2228Glu
ENST00000307340.7:c.6683T>A ENSP00000305941.3:p.Val2228Glu
NM_206933.2:c.6683T>A NP_996816.2:p.Val2228Glu
NM_206933.3:c.6683T>A NP_996816.2:p.Val2228Glu
NM_206933.4:c.6683T>A MANE Select NP_996816.3:p.Val2228Glu
Search 100 bp 5'
Search 100 bp 3'