Canonical Allele Identifier: CA37380525
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1248889
ClinVar RCV Id: RCV001654826
dbSNP Id: rs371387260
gnomAD v2: 1-215814142-TA-T
gnomAD v3: 1-215640800-TA-T
gnomAD v4: 1-215640800-TA-T
COSMIC: COSN15649431 COSN20064731 COSN20121877 COSN20122134
MyVariant Identifiers: chr1:g.215814145del (hg19) chr1:g.215814143del (hg19) chr1:g.215640803del (hg38) chr1:g.215640801del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640812del , CM000663.2:g.215640812del GRCh38
NC_000001.10:g.215814154del , CM000663.1:g.215814154del GRCh37
NC_000001.9:g.213880777del NCBI36
NG_009497.1:g.787596del
NG_009497.2:g.787648del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-67del MANE Select ENSP00000305941.3:n.14792-67del
ENST00000674083.1:c.14792-67del ENSP00000501296.1:n.14792-67del
ENST00000307340.7:c.14792-67del ENSP00000305941.3:n.14792-67del
NM_206933.2:c.14792-67del NP_996816.2:n.14792-67del
NM_206933.3:c.14792-67del NP_996816.2:n.14792-67del
NM_206933.4:c.14792-67del MANE Select NP_996816.3:n.14792-67del
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