Canonical Allele Identifier: CA2586968115
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671079dup , CM000663.2:g.215671079dup GRCh38
NC_000001.10:g.215844421dup , CM000663.1:g.215844421dup GRCh37
NC_000001.9:g.213911044dup NCBI36
NG_009497.1:g.757318dup
NG_009497.2:g.757370dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14026dup MANE Select ENSP00000305941.3:p.Gln4676ProfsTer7
ENST00000674083.1:c.14026dup ENSP00000501296.1:p.Gln4676ProfsTer7
ENST00000307340.7:c.14026dup ENSP00000305941.3:p.Gln4676ProfsTer7
NM_206933.2:c.14026dup NP_996816.2:p.Gln4676ProfsTer7
NM_206933.3:c.14026dup NP_996816.2:p.Gln4676ProfsTer7
NM_206933.4:c.14026dup MANE Select NP_996816.3:p.Gln4676ProfsTer7
Search 100 bp 5'
Search 100 bp 3'