Canonical Allele Identifier: CA37380571
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs377639725
gnomAD v2: 1-215814185-AC-A
gnomAD v3: 1-215640843-AC-A
gnomAD v4: 1-215640843-AC-A
MyVariant Identifiers: chr1:g.215814186del (hg19) chr1:g.215640844del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640844del , CM000663.2:g.215640844del GRCh38
NC_000001.10:g.215814186del , CM000663.1:g.215814186del GRCh37
NC_000001.9:g.213880809del NCBI36
NG_009497.1:g.787553del
NG_009497.2:g.787605del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-110del MANE Select ENSP00000305941.3:n.14792-110del
ENST00000674083.1:c.14792-110del ENSP00000501296.1:n.14792-110del
ENST00000307340.7:c.14792-110del ENSP00000305941.3:n.14792-110del
NM_206933.2:c.14792-110del NP_996816.2:n.14792-110del
NM_206933.3:c.14792-110del NP_996816.2:n.14792-110del
NM_206933.4:c.14792-110del MANE Select NP_996816.3:n.14792-110del
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