Canonical Allele Identifier: CA2650501417
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215728074-C-CGT
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728075_215728076dup , CM000663.2:g.215728075_215728076dup GRCh38
NC_000001.10:g.215901417_215901418dup , CM000663.1:g.215901417_215901418dup GRCh37
NC_000001.9:g.213968040_213968041dup NCBI36
NG_009497.1:g.700321_700322dup
NG_009497.2:g.700373_700374dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12020_12021dup MANE Select ENSP00000305941.3:p.Asp4008ThrfsTer15
ENST00000674083.1:c.12020_12021dup ENSP00000501296.1:p.Asp4008ThrfsTer15
ENST00000307340.7:c.12020_12021dup ENSP00000305941.3:p.Asp4008ThrfsTer15
NM_206933.2:c.12020_12021dup NP_996816.2:p.Asp4008ThrfsTer15
NM_206933.3:c.12020_12021dup NP_996816.2:p.Asp4008ThrfsTer15
NM_206933.4:c.12020_12021dup MANE Select NP_996816.3:p.Asp4008ThrfsTer15
Search 100 bp 5'
Search 100 bp 3'