Canonical Allele Identifier: CA2650504860
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215867087-G-GCTAA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867089_215867092dup , CM000663.2:g.215867089_215867092dup GRCh38
NC_000001.10:g.216040431_216040434dup , CM000663.1:g.216040431_216040434dup GRCh37
NC_000001.9:g.214107054_214107057dup NCBI36
NG_009497.1:g.561306_561309dup
NG_009497.2:g.561358_561361dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8761_8764dup MANE Select ENSP00000305941.3:p.Ala2922ValfsTer17
ENST00000674083.1:c.8761_8764dup ENSP00000501296.1:p.Ala2922ValfsTer17
ENST00000307340.7:c.8761_8764dup ENSP00000305941.3:p.Ala2922ValfsTer17
NM_206933.2:c.8761_8764dup NP_996816.2:p.Ala2922ValfsTer17
NM_206933.3:c.8761_8764dup NP_996816.2:p.Ala2922ValfsTer17
NM_206933.4:c.8761_8764dup MANE Select NP_996816.3:p.Ala2922ValfsTer17
Search 100 bp 5'
Search 100 bp 3'