Canonical Allele Identifier: CA1220542876
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs770379004
gnomAD v4: 1-216070425-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070425C>G , CM000663.2:g.216070425C>G GRCh38
NC_000001.10:g.216243767C>G , CM000663.1:g.216243767C>G GRCh37
NC_000001.9:g.214310390C>G NCBI36
NG_009497.1:g.357972G>C
NG_009497.2:g.358024G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5858-133G>C MANE Select ENSP00000305941.3:n.5858-133G>C
ENST00000674083.1:c.5858-133G>C ENSP00000501296.1:n.5858-133G>C
ENST00000307340.7:c.5858-133G>C ENSP00000305941.3:n.5858-133G>C
NM_206933.2:c.5858-133G>C NP_996816.2:n.5858-133G>C
NM_206933.3:c.5858-133G>C NP_996816.2:n.5858-133G>C
NM_206933.4:c.5858-133G>C MANE Select NP_996816.3:n.5858-133G>C
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