Canonical Allele Identifier: CA1220373516
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674347G= , CM000663.2:g.215674347G= GRCh38
NC_000001.10:g.215847689G= , CM000663.1:g.215847689G= GRCh37
NC_000001.9:g.213914312G= NCBI36
NG_009497.1:g.754050C=
NG_009497.2:g.754102C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13564C= MANE Select ENSP00000305941.3:p.Leu4522=
ENST00000674083.1:c.13564C= ENSP00000501296.1:p.Leu4522=
ENST00000307340.7:c.13564C= ENSP00000305941.3:p.Leu4522=
NM_206933.2:c.13564C= NP_996816.2:p.Leu4522=
NM_206933.3:c.13564C= NP_996816.2:p.Leu4522=
NM_206933.4:c.13564C= MANE Select NP_996816.3:p.Leu4522=