Canonical Allele Identifier: CA1139656546
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 813244
ClinVar RCV Id: RCV001199788
dbSNP Id: rs1656646424
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640631del , CM000663.2:g.215640631del GRCh38
NC_000001.10:g.215813973del , CM000663.1:g.215813973del GRCh37
NC_000001.9:g.213880596del NCBI36
NG_009497.1:g.787766del
NG_009497.2:g.787818del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14895del MANE Select ENSP00000305941.3:p.Leu4966Ter
ENST00000674083.1:c.14895del ENSP00000501296.1:p.Leu4966Ter
ENST00000307340.7:c.14895del ENSP00000305941.3:p.Leu4966Ter
NM_206933.2:c.14895del NP_996816.2:p.Leu4966Ter
NM_206933.3:c.14895del NP_996816.2:p.Leu4966Ter
NM_206933.4:c.14895del MANE Select NP_996816.3:p.Leu4966Ter
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