Canonical Allele Identifier: CA1220434256
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs76394535
gnomAD v4: 1-215816919-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816919G>C , CM000663.2:g.215816919G>C GRCh38
NC_000001.10:g.215990261G>C , CM000663.1:g.215990261G>C GRCh37
NC_000001.9:g.214056884G>C NCBI36
NG_009497.1:g.611478C>G
NG_009497.2:g.611530C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9570+78C>G MANE Select ENSP00000305941.3:n.9570+78C>G
ENST00000674083.1:c.9570+78C>G ENSP00000501296.1:n.9570+78C>G
ENST00000307340.7:c.9570+78C>G ENSP00000305941.3:n.9570+78C>G
NM_206933.2:c.9570+78C>G NP_996816.2:n.9570+78C>G
NM_206933.3:c.9570+78C>G NP_996816.2:n.9570+78C>G
NM_206933.4:c.9570+78C>G MANE Select NP_996816.3:n.9570+78C>G
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