Canonical Allele Identifier: CA2650501750
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215728536-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728536G>T , CM000663.2:g.215728536G>T GRCh38
NC_000001.10:g.215901878G>T , CM000663.1:g.215901878G>T GRCh37
NC_000001.9:g.213968501G>T NCBI36
NG_009497.1:g.699861C>A
NG_009497.2:g.699913C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-152C>A MANE Select ENSP00000305941.3:n.11712-152C>A
ENST00000674083.1:c.11712-152C>A ENSP00000501296.1:n.11712-152C>A
ENST00000307340.7:c.11712-152C>A ENSP00000305941.3:n.11712-152C>A
NM_206933.2:c.11712-152C>A NP_996816.2:n.11712-152C>A
NM_206933.3:c.11712-152C>A NP_996816.2:n.11712-152C>A
NM_206933.4:c.11712-152C>A MANE Select NP_996816.3:n.11712-152C>A
Search 100 bp 5'
Search 100 bp 3'