Canonical Allele Identifier: CA2586968179
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675416dup , CM000663.2:g.215675416dup GRCh38
NC_000001.10:g.215848758dup , CM000663.1:g.215848758dup GRCh37
NC_000001.9:g.213915381dup NCBI36
NG_009497.1:g.752981dup
NG_009497.2:g.753033dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12495dup MANE Select ENSP00000305941.3:p.Val4166CysfsTer7
ENST00000674083.1:c.12495dup ENSP00000501296.1:p.Val4166CysfsTer7
ENST00000307340.7:c.12495dup ENSP00000305941.3:p.Val4166CysfsTer7
NM_206933.2:c.12495dup NP_996816.2:p.Val4166CysfsTer7
NM_206933.3:c.12495dup NP_996816.2:p.Val4166CysfsTer7
NM_206933.4:c.12495dup MANE Select NP_996816.3:p.Val4166CysfsTer7
Search 100 bp 5'
Search 100 bp 3'