Canonical Allele Identifier: CA37380540
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs777396474
gnomAD v2: 1-215814154-AT-A
gnomAD v3: 1-215640812-AT-A
gnomAD v4: 1-215640812-AT-A
MyVariant Identifiers: chr1:g.215814155del (hg19) chr1:g.215640813del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640813del , CM000663.2:g.215640813del GRCh38
NC_000001.10:g.215814155del , CM000663.1:g.215814155del GRCh37
NC_000001.9:g.213880778del NCBI36
NG_009497.1:g.787584del
NG_009497.2:g.787636del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-79del MANE Select ENSP00000305941.3:n.14792-79del
ENST00000674083.1:c.14792-79del ENSP00000501296.1:n.14792-79del
ENST00000307340.7:c.14792-79del ENSP00000305941.3:n.14792-79del
NM_206933.2:c.14792-79del NP_996816.2:n.14792-79del
NM_206933.3:c.14792-79del NP_996816.2:n.14792-79del
NM_206933.4:c.14792-79del MANE Select NP_996816.3:n.14792-79del
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