Canonical Allele Identifier: CA2650528724
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs2102822979
gnomAD v4: 1-215845745-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215845745G>A , CM000663.2:g.215845745G>A GRCh38
NC_000001.10:g.216019087G>A , CM000663.1:g.216019087G>A GRCh37
NC_000001.9:g.214085710G>A NCBI36
NG_009497.1:g.582652C>T
NG_009497.2:g.582704C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9055+79C>T MANE Select ENSP00000305941.3:n.9055+79C>T
ENST00000674083.1:c.9055+79C>T ENSP00000501296.1:n.9055+79C>T
ENST00000307340.7:c.9055+79C>T ENSP00000305941.3:n.9055+79C>T
NM_206933.2:c.9055+79C>T NP_996816.2:n.9055+79C>T
NM_206933.3:c.9055+79C>T NP_996816.2:n.9055+79C>T
NM_206933.4:c.9055+79C>T MANE Select NP_996816.3:n.9055+79C>T
Search 100 bp 5'
Search 100 bp 3'