Canonical Allele Identifier: CA2650512839
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-216246548-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246548C>T , CM000663.2:g.216246548C>T GRCh38
NC_000001.10:g.216419890C>T , CM000663.1:g.216419890C>T GRCh37
NC_000001.9:g.214486513C>T NCBI36
NG_009497.1:g.181849G>A
NG_009497.2:g.181901G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2809+37G>A MANE Select ENSP00000305941.3:n.2809+37G>A
ENST00000674083.1:c.2809+37G>A ENSP00000501296.1:n.2809+37G>A
ENST00000307340.7:c.2809+37G>A ENSP00000305941.3:n.2809+37G>A
ENST00000366942.3:c.2809+37G>A ENSP00000355909.3:n.2809+37G>A
NM_007123.5:c.2809+37G>A NP_009054.5:n.2809+37G>A
NM_206933.2:c.2809+37G>A NP_996816.2:n.2809+37G>A
NM_206933.3:c.2809+37G>A NP_996816.2:n.2809+37G>A
NM_007123.6:c.2809+37G>A NP_009054.6:n.2809+37G>A
NM_206933.4:c.2809+37G>A MANE Select NP_996816.3:n.2809+37G>A
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