Canonical Allele Identifier: CA2747719146
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728502T>A , CM000663.2:g.215728502T>A GRCh38
NC_000001.10:g.215901844T>A , CM000663.1:g.215901844T>A GRCh37
NC_000001.9:g.213968467T>A NCBI36
NG_009497.1:g.699895A>T
NG_009497.2:g.699947A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-118A>T MANE Select ENSP00000305941.3:n.11712-118A>T
ENST00000674083.1:c.11712-118A>T ENSP00000501296.1:n.11712-118A>T
ENST00000307340.7:c.11712-118A>T ENSP00000305941.3:n.11712-118A>T
NM_206933.2:c.11712-118A>T NP_996816.2:n.11712-118A>T
NM_206933.3:c.11712-118A>T NP_996816.2:n.11712-118A>T
NM_206933.4:c.11712-118A>T MANE Select NP_996816.3:n.11712-118A>T
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