Canonical Allele Identifier: CA344841108
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215844501A>T (hg19) chr1:g.215671159A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671159A>T , CM000663.2:g.215671159A>T GRCh38
NC_000001.10:g.215844501A>T , CM000663.1:g.215844501A>T GRCh37
NC_000001.9:g.213911124A>T NCBI36
NG_009497.1:g.757238T>A
NG_009497.2:g.757290T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.13946T>A MANE Select ENSP00000305941.3:p.Phe4649Tyr
ENST00000674083.1:c.13946T>A ENSP00000501296.1:p.Phe4649Tyr
ENST00000307340.7:c.13946T>A ENSP00000305941.3:p.Phe4649Tyr
NM_206933.2:c.13946T>A NP_996816.2:p.Phe4649Tyr
NM_206933.3:c.13946T>A NP_996816.2:p.Phe4649Tyr
NM_206933.4:c.13946T>A MANE Select NP_996816.3:p.Phe4649Tyr
Search 100 bp 5'
Search 100 bp 3'