Canonical Allele Identifier: CA344825044
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1206466167
gnomAD v2: 1-215990457-T-A
gnomAD v4: 1-215817115-T-A
MyVariant Identifiers: chr1:g.215990457T>A (hg19) chr1:g.215817115T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817115T>A , CM000663.2:g.215817115T>A GRCh38
NC_000001.10:g.215990457T>A , CM000663.1:g.215990457T>A GRCh37
NC_000001.9:g.214057080T>A NCBI36
NG_009497.1:g.611282A>T
NG_009497.2:g.611334A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9452A>T MANE Select ENSP00000305941.3:p.Tyr3151Phe
ENST00000674083.1:c.9452A>T ENSP00000501296.1:p.Tyr3151Phe
ENST00000307340.7:c.9452A>T ENSP00000305941.3:p.Tyr3151Phe
NM_206933.2:c.9452A>T NP_996816.2:p.Tyr3151Phe
NM_206933.3:c.9452A>T NP_996816.2:p.Tyr3151Phe
NM_206933.4:c.9452A>T MANE Select NP_996816.3:p.Tyr3151Phe
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