Canonical Allele Identifier: CA2739275632
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2814274
ClinVar RCV Id: RCV003680853
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215813916A>G , CM000663.2:g.215813916A>G GRCh38
NC_000001.10:g.215987258A>G , CM000663.1:g.215987258A>G GRCh37
NC_000001.9:g.214053881A>G NCBI36
NG_009497.1:g.614481T>C
NG_009497.2:g.614533T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9571-12T>C MANE Select ENSP00000305941.3:n.9571-12T>C
ENST00000674083.1:c.9571-12T>C ENSP00000501296.1:n.9571-12T>C
ENST00000307340.7:c.9571-12T>C ENSP00000305941.3:n.9571-12T>C
NM_206933.2:c.9571-12T>C NP_996816.2:n.9571-12T>C
NM_206933.3:c.9571-12T>C NP_996816.2:n.9571-12T>C
NM_206933.4:c.9571-12T>C MANE Select NP_996816.3:n.9571-12T>C
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