Canonical Allele Identifier: CA37428213
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs10632923
gnomAD v2: 1-215990630-AAT-A
gnomAD v3: 1-215817288-AAT-A
gnomAD v4: 1-215817288-AAT-A
MyVariant Identifiers: chr1:g.215990631_215990632del (hg19) chr1:g.215817289_215817290del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817300_215817301del , CM000663.2:g.215817300_215817301del GRCh38
NC_000001.10:g.215990642_215990643del , CM000663.1:g.215990642_215990643del GRCh37
NC_000001.9:g.214057265_214057266del NCBI36
NG_009497.1:g.611107_611108del
NG_009497.2:g.611159_611160del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9372-95_9372-94del MANE Select ENSP00000305941.3:n.9372-95_9372-94del
ENST00000674083.1:c.9372-95_9372-94del ENSP00000501296.1:n.9372-95_9372-94del
ENST00000307340.7:c.9372-95_9372-94del ENSP00000305941.3:n.9372-95_9372-94del
NM_206933.2:c.9372-95_9372-94del NP_996816.2:n.9372-95_9372-94del
NM_206933.3:c.9372-95_9372-94del NP_996816.2:n.9372-95_9372-94del
NM_206933.4:c.9372-95_9372-94del MANE Select NP_996816.3:n.9372-95_9372-94del
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