Canonical Allele Identifier: CA344830357
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.216052145G>A (hg19) chr1:g.215878803G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215878803G>A , CM000663.2:g.215878803G>A GRCh38
NC_000001.10:g.216052145G>A , CM000663.1:g.216052145G>A GRCh37
NC_000001.9:g.214118768G>A NCBI36
NG_009497.1:g.549594C>T
NG_009497.2:g.549646C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.8519C>T MANE Select ENSP00000305941.3:p.Ser2840Phe
ENST00000674083.1:c.8519C>T ENSP00000501296.1:p.Ser2840Phe
ENST00000307340.7:c.8519C>T ENSP00000305941.3:p.Ser2840Phe
NM_206933.2:c.8519C>T NP_996816.2:p.Ser2840Phe
NM_206933.3:c.8519C>T NP_996816.2:p.Ser2840Phe
NM_206933.4:c.8519C>T MANE Select NP_996816.3:p.Ser2840Phe
Search 100 bp 5'
Search 100 bp 3'