Canonical Allele Identifier: CA1220434290
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1310926465
gnomAD v4: 1-215816990-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816990G>T , CM000663.2:g.215816990G>T GRCh38
NC_000001.10:g.215990332G>T , CM000663.1:g.215990332G>T GRCh37
NC_000001.9:g.214056955G>T NCBI36
NG_009497.1:g.611407C>A
NG_009497.2:g.611459C>A

Transcript Alleles

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