Canonical Allele Identifier: CA1012185442
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1656666866
gnomAD v3: 1-215640996-AT-A
gnomAD v4: 1-215640996-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640997del , CM000663.2:g.215640997del GRCh38
NC_000001.10:g.215814339del , CM000663.1:g.215814339del GRCh37
NC_000001.9:g.213880962del NCBI36
NG_009497.1:g.787400del
NG_009497.2:g.787452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-263del MANE Select ENSP00000305941.3:n.14792-263del
ENST00000674083.1:c.14792-263del ENSP00000501296.1:n.14792-263del
ENST00000307340.7:c.14792-263del ENSP00000305941.3:n.14792-263del
NM_206933.2:c.14792-263del NP_996816.2:n.14792-263del
NM_206933.3:c.14792-263del NP_996816.2:n.14792-263del
NM_206933.4:c.14792-263del MANE Select NP_996816.3:n.14792-263del
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