Canonical Allele Identifier: CA1220446645
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1663822397
gnomAD v4: 1-215845755-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215845755A>C , CM000663.2:g.215845755A>C GRCh38
NC_000001.10:g.216019097A>C , CM000663.1:g.216019097A>C GRCh37
NC_000001.9:g.214085720A>C NCBI36
NG_009497.1:g.582642T>G
NG_009497.2:g.582694T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9055+69T>G MANE Select ENSP00000305941.3:n.9055+69T>G
ENST00000674083.1:c.9055+69T>G ENSP00000501296.1:n.9055+69T>G
ENST00000307340.7:c.9055+69T>G ENSP00000305941.3:n.9055+69T>G
NM_206933.2:c.9055+69T>G NP_996816.2:n.9055+69T>G
NM_206933.3:c.9055+69T>G NP_996816.2:n.9055+69T>G
NM_206933.4:c.9055+69T>G MANE Select NP_996816.3:n.9055+69T>G
Search 100 bp 5'
Search 100 bp 3'