Canonical Allele Identifier: CA731337622
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1303520098
gnomAD v3: 1-215675534-G-GT
gnomAD v4: 1-215675534-G-GT
MyVariant Identifiers: chr1:g.215848876_215848877insT (hg19) chr1:g.215675534_215675535insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675535dup , CM000663.2:g.215675535dup GRCh38
NC_000001.10:g.215848877dup , CM000663.1:g.215848877dup GRCh37
NC_000001.9:g.213915500dup NCBI36
NG_009497.1:g.752862dup
NG_009497.2:g.752914dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12376dup MANE Select ENSP00000305941.3:p.Thr4126AsnfsTer27
ENST00000674083.1:c.12376dup ENSP00000501296.1:p.Thr4126AsnfsTer27
ENST00000307340.7:c.12376dup ENSP00000305941.3:p.Thr4126AsnfsTer27
NM_206933.2:c.12376dup NP_996816.2:p.Thr4126AsnfsTer27
NM_206933.3:c.12376dup NP_996816.2:p.Thr4126AsnfsTer27
NM_206933.4:c.12376dup MANE Select NP_996816.3:p.Thr4126AsnfsTer27
Search 100 bp 5'
Search 100 bp 3'