Canonical Allele Identifier: CA1394482
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs747385485
ExAC: 1:216040314 CAA / C
gnomAD v2: 1-216040314-CAA-C
gnomAD v3: 1-215866972-CAA-C
gnomAD v4: 1-215866972-CAA-C
MyVariant Identifiers: chr1:g.216040315_216040316del (hg19) chr1:g.215866973_215866974del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215866974_215866975del , CM000663.2:g.215866974_215866975del GRCh38
NC_000001.10:g.216040316_216040317del , CM000663.1:g.216040316_216040317del GRCh37
NC_000001.9:g.214106939_214106940del NCBI36
NG_009497.1:g.561423_561424del
NG_009497.2:g.561475_561476del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8845+33_8845+34del MANE Select ENSP00000305941.3:n.8845+33_8845+34del
ENST00000674083.1:c.8845+33_8845+34del ENSP00000501296.1:n.8845+33_8845+34del
ENST00000307340.7:c.8845+33_8845+34del ENSP00000305941.3:n.8845+33_8845+34del
NM_206933.2:c.8845+33_8845+34del NP_996816.2:n.8845+33_8845+34del
NM_206933.3:c.8845+33_8845+34del NP_996816.2:n.8845+33_8845+34del
NM_206933.4:c.8845+33_8845+34del MANE Select NP_996816.3:n.8845+33_8845+34del
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