Canonical Allele Identifier: CA1220359705
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640624C= , CM000663.2:g.215640624C= GRCh38
NC_000001.10:g.215813966C= , CM000663.1:g.215813966C= GRCh37
NC_000001.9:g.213880589C= NCBI36
NG_009497.1:g.787773G=
NG_009497.2:g.787825G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14902G= MANE Select ENSP00000305941.3:p.Asp4968=
ENST00000674083.1:c.14902G= ENSP00000501296.1:p.Asp4968=
ENST00000307340.7:c.14902G= ENSP00000305941.3:p.Asp4968=
NM_206933.2:c.14902G= NP_996816.2:p.Asp4968=
NM_206933.3:c.14902G= NP_996816.2:p.Asp4968=
NM_206933.4:c.14902G= MANE Select NP_996816.3:p.Asp4968=