Canonical Allele Identifier: CA1220455623
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs972578380
gnomAD v4: 1-215866941-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215866941A>T , CM000663.2:g.215866941A>T GRCh38
NC_000001.10:g.216040283A>T , CM000663.1:g.216040283A>T GRCh37
NC_000001.9:g.214106906A>T NCBI36
NG_009497.1:g.561456T>A
NG_009497.2:g.561508T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8845+66T>A MANE Select ENSP00000305941.3:n.8845+66T>A
ENST00000674083.1:c.8845+66T>A ENSP00000501296.1:n.8845+66T>A
ENST00000307340.7:c.8845+66T>A ENSP00000305941.3:n.8845+66T>A
NM_206933.2:c.8845+66T>A NP_996816.2:n.8845+66T>A
NM_206933.3:c.8845+66T>A NP_996816.2:n.8845+66T>A
NM_206933.4:c.8845+66T>A MANE Select NP_996816.3:n.8845+66T>A
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