Canonical Allele Identifier: CA1220542805
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070205C= , CM000663.2:g.216070205C= GRCh38
NC_000001.10:g.216243547C= , CM000663.1:g.216243547C= GRCh37
NC_000001.9:g.214310170C= NCBI36
NG_009497.1:g.358192G=
NG_009497.2:g.358244G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5945G= MANE Select ENSP00000305941.3:p.Gly1982=
ENST00000674083.1:c.5945G= ENSP00000501296.1:p.Gly1982=
ENST00000307340.7:c.5945G= ENSP00000305941.3:p.Gly1982=
NM_206933.2:c.5945G= NP_996816.2:p.Gly1982=
NM_206933.3:c.5945G= NP_996816.2:p.Gly1982=
NM_206933.4:c.5945G= MANE Select NP_996816.3:p.Gly1982=