Canonical Allele Identifier: CA2650501681
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728381_215728388dup , CM000663.2:g.215728381_215728388dup GRCh38
NC_000001.10:g.215901723_215901730dup , CM000663.1:g.215901723_215901730dup GRCh37
NC_000001.9:g.213968346_213968353dup NCBI36
NG_009497.1:g.700009_700016dup
NG_009497.2:g.700061_700068dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-4_11715dup
ENST00000674083.1:c.11712-4_11715dup
ENST00000307340.7:c.11712-4_11715dup
NM_206933.2:c.11712-4_11715dup
NM_206933.3:c.11712-4_11715dup
NM_206933.4:c.11712-4_11715dup