Canonical Allele Identifier: CA529002656
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1558341928
gnomAD v2: 1-216420338-C-CTG
gnomAD v4: 1-216246996-C-CTG
MyVariant Identifiers: chr1:g.216420338_216420339insTG (hg19) chr1:g.216246996_216246997insTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247000_216247001dup , CM000663.2:g.216247000_216247001dup GRCh38
NC_000001.10:g.216420342_216420343dup , CM000663.1:g.216420342_216420343dup GRCh37
NC_000001.9:g.214486965_214486966dup NCBI36
NG_009497.1:g.181399_181400dup
NG_009497.2:g.181451_181452dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2396_2397dup MANE Select ENSP00000305941.3:p.Ala800GlnfsTer?
ENST00000674083.1:c.2396_2397dup ENSP00000501296.1:p.Ala800GlnfsTer?
ENST00000307340.7:c.2396_2397dup ENSP00000305941.3:p.Ala800GlnfsTer?
ENST00000366942.3:c.2396_2397dup ENSP00000355909.3:p.Ala800GlnfsTer?
NM_007123.5:c.2396_2397dup NP_009054.5:p.Ala800GlnfsTer?
NM_206933.2:c.2396_2397dup NP_996816.2:p.Ala800GlnfsTer?
NM_206933.3:c.2396_2397dup NP_996816.2:p.Ala800GlnfsTer?
NM_007123.6:c.2396_2397dup NP_009054.6:p.Ala800GlnfsTer?
NM_206933.4:c.2396_2397dup MANE Select NP_996816.3:p.Ala800GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'