Canonical Allele Identifier: CA1012200645
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs780362048
gnomAD v3: 1-215766656-C-G
gnomAD v4: 1-215766656-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215766656C>G , CM000663.2:g.215766656C>G GRCh38
NC_000001.10:g.215939998C>G , CM000663.1:g.215939998C>G GRCh37
NC_000001.9:g.214006621C>G NCBI36
NG_009497.1:g.661741G>C
NG_009497.2:g.661793G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.11047+25G>C MANE Select ENSP00000305941.3:n.11047+25G>C
ENST00000674083.1:c.11047+25G>C ENSP00000501296.1:n.11047+25G>C
ENST00000307340.7:c.11047+25G>C ENSP00000305941.3:n.11047+25G>C
NM_206933.2:c.11047+25G>C NP_996816.2:n.11047+25G>C
NM_206933.3:c.11047+25G>C NP_996816.2:n.11047+25G>C
NM_206933.4:c.11047+25G>C MANE Select NP_996816.3:n.11047+25G>C
Search 100 bp 5'
Search 100 bp 3'