Canonical Allele Identifier: CA1396233
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs778677624
ExAC: 1:216420303 CTTAGCA / C
gnomAD v2: 1-216420303-CTTAGCA-C
MyVariant Identifiers: chr1:g.216420304_216420309del (hg19) chr1:g.216246962_216246967del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246965_216246970del , CM000663.2:g.216246965_216246970del GRCh38
NC_000001.10:g.216420307_216420312del , CM000663.1:g.216420307_216420312del GRCh37
NC_000001.9:g.214486930_214486935del NCBI36
NG_009497.1:g.181430_181435del
NG_009497.2:g.181482_181487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2427_2432del MANE Select ENSP00000305941.3:p.Asn809_Ala810del
ENST00000674083.1:c.2427_2432del ENSP00000501296.1:p.Asn809_Ala810del
ENST00000307340.7:c.2427_2432del ENSP00000305941.3:p.Asn809_Ala810del
ENST00000366942.3:c.2427_2432del ENSP00000355909.3:p.Asn809_Ala810del
NM_007123.5:c.2427_2432del NP_009054.5:p.Asn809_Ala810del
NM_206933.2:c.2427_2432del NP_996816.2:p.Asn809_Ala810del
NM_206933.3:c.2427_2432del NP_996816.2:p.Asn809_Ala810del
NM_007123.6:c.2427_2432del NP_009054.6:p.Asn809_Ala810del
NM_206933.4:c.2427_2432del MANE Select NP_996816.3:p.Asn809_Ala810del
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