Canonical Allele Identifier: CA1394218
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs570710986
ExAC: 1:215972504 TA / T
gnomAD v2: 1-215972504-TA-T
gnomAD v3: 1-215799162-TA-T
gnomAD v4: 1-215799162-TA-T
MyVariant Identifiers: chr1:g.215972505del (hg19) chr1:g.215799164del (hg38) chr1:g.215799163del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799169del , CM000663.2:g.215799169del GRCh38
NC_000001.10:g.215972511del , CM000663.1:g.215972511del GRCh37
NC_000001.9:g.214039134del NCBI36
NG_009497.1:g.629234del
NG_009497.2:g.629286del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9740-38del MANE Select ENSP00000305941.3:n.9740-38del
ENST00000674083.1:c.9740-38del ENSP00000501296.1:n.9740-38del
ENST00000307340.7:c.9740-38del ENSP00000305941.3:n.9740-38del
NM_206933.2:c.9740-38del NP_996816.2:n.9740-38del
NM_206933.3:c.9740-38del NP_996816.2:n.9740-38del
NM_206933.4:c.9740-38del MANE Select NP_996816.3:n.9740-38del
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