Canonical Allele Identifier: CA529002645
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1558342224
gnomAD v2: 1-216420583-TA-T
gnomAD v4: 1-216247241-TA-T
MyVariant Identifiers: chr1:g.216420584del (hg19) chr1:g.216247242del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247242del , CM000663.2:g.216247242del GRCh38
NC_000001.10:g.216420584del , CM000663.1:g.216420584del GRCh37
NC_000001.9:g.214487207del NCBI36
NG_009497.1:g.181155del
NG_009497.2:g.181207del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2168-16del MANE Select ENSP00000305941.3:n.2168-16del
ENST00000674083.1:c.2168-16del ENSP00000501296.1:n.2168-16del
ENST00000307340.7:c.2168-16del ENSP00000305941.3:n.2168-16del
ENST00000366942.3:c.2168-16del ENSP00000355909.3:n.2168-16del
NM_007123.5:c.2168-16del NP_009054.5:n.2168-16del
NM_206933.2:c.2168-16del NP_996816.2:n.2168-16del
NM_206933.3:c.2168-16del NP_996816.2:n.2168-16del
NM_007123.6:c.2168-16del NP_009054.6:n.2168-16del
NM_206933.4:c.2168-16del MANE Select NP_996816.3:n.2168-16del
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