Canonical Allele Identifier: CA529002319
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1070068
ClinVar RCV Id: RCV001382095
dbSNP Id: rs1167455690
gnomAD v2: 1-215953252-CTGG-C
gnomAD v4: 1-215779910-CTGG-C
MyVariant Identifiers: chr1:g.215953253_215953255del (hg19) chr1:g.215779911_215779913del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779912_215779914del , CM000663.2:g.215779912_215779914del GRCh38
NC_000001.10:g.215953254_215953256del , CM000663.1:g.215953254_215953256del GRCh37
NC_000001.9:g.214019877_214019879del NCBI36
NG_009497.1:g.648484_648486del
NG_009497.2:g.648536_648538del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10869_10871del MANE Select ENSP00000305941.3:p.Tyr3623Ter
ENST00000674083.1:c.10869_10871del ENSP00000501296.1:p.Tyr3623Ter
ENST00000307340.7:c.10869_10871del ENSP00000305941.3:p.Tyr3623Ter
NM_206933.2:c.10869_10871del NP_996816.2:p.Tyr3623Ter
NM_206933.3:c.10869_10871del NP_996816.2:p.Tyr3623Ter
NM_206933.4:c.10869_10871del MANE Select NP_996816.3:p.Tyr3623Ter
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