Canonical Allele Identifier: CA344865671
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247203A>G , CM000663.2:g.216247203A>G GRCh38
NC_000001.10:g.216420545A>G , CM000663.1:g.216420545A>G GRCh37
NC_000001.9:g.214487168A>G NCBI36
NG_009497.1:g.181194T>C
NG_009497.2:g.181246T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2191T>C MANE Select ENSP00000305941.3:p.Phe731Leu
ENST00000674083.1:c.2191T>C ENSP00000501296.1:p.Phe731Leu
ENST00000307340.7:c.2191T>C ENSP00000305941.3:p.Phe731Leu
ENST00000366942.3:c.2191T>C ENSP00000355909.3:p.Phe731Leu
NM_007123.5:c.2191T>C NP_009054.5:p.Phe731Leu
NM_206933.2:c.2191T>C NP_996816.2:p.Phe731Leu
NM_206933.3:c.2191T>C NP_996816.2:p.Phe731Leu
NM_007123.6:c.2191T>C NP_009054.6:p.Phe731Leu
NM_206933.4:c.2191T>C MANE Select NP_996816.3:p.Phe731Leu