Canonical Allele Identifier: CA1393929
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs755578718
ExAC: 1:215953382 AC / A
MyVariant Identifiers: chr1:g.215953383del (hg19) chr1:g.215780041del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215780042del , CM000663.2:g.215780042del GRCh38
NC_000001.10:g.215953384del , CM000663.1:g.215953384del GRCh37
NC_000001.9:g.214020007del NCBI36
NG_009497.1:g.648356del
NG_009497.2:g.648408del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10741del
ENST00000674083.1:c.10741del
ENST00000307340.7:c.10741del
NM_206933.2:c.10741del
NM_206933.3:c.10741del
NM_206933.4:c.10741del
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