Canonical Allele Identifier: CA1220416416
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1661652578
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215781885dup , CM000663.2:g.215781885dup GRCh38
NC_000001.10:g.215955227dup , CM000663.1:g.215955227dup GRCh37
NC_000001.9:g.214021850dup NCBI36
NG_009497.1:g.646512dup
NG_009497.2:g.646564dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10740+157dup MANE Select ENSP00000305941.3:n.10740+157dup
ENST00000674083.1:c.10740+157dup ENSP00000501296.1:n.10740+157dup
ENST00000307340.7:c.10740+157dup ENSP00000305941.3:n.10740+157dup
NM_206933.2:c.10740+157dup NP_996816.2:n.10740+157dup
NM_206933.3:c.10740+157dup NP_996816.2:n.10740+157dup
NM_206933.4:c.10740+157dup MANE Select NP_996816.3:n.10740+157dup
Search 100 bp 5'
Search 100 bp 3'