Canonical Allele Identifier: CA1012220348
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs2031522051
gnomAD v3: 1-216070462-GC-G
gnomAD v4: 1-216070462-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070464del , CM000663.2:g.216070464del GRCh38
NC_000001.10:g.216243806del , CM000663.1:g.216243806del GRCh37
NC_000001.9:g.214310429del NCBI36
NG_009497.1:g.357934del
NG_009497.2:g.357986del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5858-171del MANE Select ENSP00000305941.3:n.5858-171del
ENST00000674083.1:c.5858-171del ENSP00000501296.1:n.5858-171del
ENST00000307340.7:c.5858-171del ENSP00000305941.3:n.5858-171del
NM_206933.2:c.5858-171del NP_996816.2:n.5858-171del
NM_206933.3:c.5858-171del NP_996816.2:n.5858-171del
NM_206933.4:c.5858-171del MANE Select NP_996816.3:n.5858-171del
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