Canonical Allele Identifier: CA344864967
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247035A>C , CM000663.2:g.216247035A>C GRCh38
NC_000001.10:g.216420377A>C , CM000663.1:g.216420377A>C GRCh37
NC_000001.9:g.214487000A>C NCBI36
NG_009497.1:g.181362T>G
NG_009497.2:g.181414T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2359T>G MANE Select ENSP00000305941.3:p.Leu787Val
ENST00000674083.1:c.2359T>G ENSP00000501296.1:p.Leu787Val
ENST00000307340.7:c.2359T>G ENSP00000305941.3:p.Leu787Val
ENST00000366942.3:c.2359T>G ENSP00000355909.3:p.Leu787Val
NM_007123.5:c.2359T>G NP_009054.5:p.Leu787Val
NM_206933.2:c.2359T>G NP_996816.2:p.Leu787Val
NM_206933.3:c.2359T>G NP_996816.2:p.Leu787Val
NM_007123.6:c.2359T>G NP_009054.6:p.Leu787Val
NM_206933.4:c.2359T>G MANE Select NP_996816.3:p.Leu787Val