Canonical Allele Identifier: CA731385820
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1164719634
gnomAD v3: 1-215866927-T-TG
gnomAD v4: 1-215866927-T-TG
MyVariant Identifiers: chr1:g.216040269_216040270insG (hg19) chr1:g.215866927_215866928insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215866932dup , CM000663.2:g.215866932dup GRCh38
NC_000001.10:g.216040274dup , CM000663.1:g.216040274dup GRCh37
NC_000001.9:g.214106897dup NCBI36
NG_009497.1:g.561469dup
NG_009497.2:g.561521dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8845+79dup MANE Select ENSP00000305941.3:n.8845+79dup
ENST00000674083.1:c.8845+79dup ENSP00000501296.1:n.8845+79dup
ENST00000307340.7:c.8845+79dup ENSP00000305941.3:n.8845+79dup
NM_206933.2:c.8845+79dup NP_996816.2:n.8845+79dup
NM_206933.3:c.8845+79dup NP_996816.2:n.8845+79dup
NM_206933.4:c.8845+79dup MANE Select NP_996816.3:n.8845+79dup
Search 100 bp 5'
Search 100 bp 3'