Canonical Allele Identifier: CA1220434260
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs941103592
gnomAD v4: 1-215816932-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816932A>G , CM000663.2:g.215816932A>G GRCh38
NC_000001.10:g.215990274A>G , CM000663.1:g.215990274A>G GRCh37
NC_000001.9:g.214056897A>G NCBI36
NG_009497.1:g.611465T>C
NG_009497.2:g.611517T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9570+65T>C MANE Select ENSP00000305941.3:n.9570+65T>C
ENST00000674083.1:c.9570+65T>C ENSP00000501296.1:n.9570+65T>C
ENST00000307340.7:c.9570+65T>C ENSP00000305941.3:n.9570+65T>C
NM_206933.2:c.9570+65T>C NP_996816.2:n.9570+65T>C
NM_206933.3:c.9570+65T>C NP_996816.2:n.9570+65T>C
NM_206933.4:c.9570+65T>C MANE Select NP_996816.3:n.9570+65T>C
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