Canonical Allele Identifier: CA731371326
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1307346573
MyVariant Identifiers: chr1:g.215972632del (hg19) chr1:g.215799290del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799294del , CM000663.2:g.215799294del GRCh38
NC_000001.10:g.215972636del , CM000663.1:g.215972636del GRCh37
NC_000001.9:g.214039259del NCBI36
NG_009497.1:g.629107del
NG_009497.2:g.629159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9740-165del MANE Select ENSP00000305941.3:n.9740-165del
ENST00000674083.1:c.9740-165del ENSP00000501296.1:n.9740-165del
ENST00000307340.7:c.9740-165del ENSP00000305941.3:n.9740-165del
NM_206933.2:c.9740-165del NP_996816.2:n.9740-165del
NM_206933.3:c.9740-165del NP_996816.2:n.9740-165del
NM_206933.4:c.9740-165del MANE Select NP_996816.3:n.9740-165del
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