Canonical Allele Identifier: CA2586968381
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-216070189-G-GTACTTCTCAAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070193_216070203dup , CM000663.2:g.216070193_216070203dup GRCh38
NC_000001.10:g.216243535_216243545dup , CM000663.1:g.216243535_216243545dup GRCh37
NC_000001.9:g.214310158_214310168dup NCBI36
NG_009497.1:g.358197_358207dup
NG_009497.2:g.358249_358259dup

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.5950_5960dup MANE Select ENSP00000305941.3:p.Tyr1987Ter
ENST00000674083.1:c.5950_5960dup ENSP00000501296.1:p.Tyr1987Ter
ENST00000307340.7:c.5950_5960dup ENSP00000305941.3:p.Tyr1987Ter
NM_206933.2:c.5950_5960dup NP_996816.2:p.Tyr1987Ter
NM_206933.3:c.5950_5960dup NP_996816.2:p.Tyr1987Ter
NM_206933.4:c.5950_5960dup MANE Select NP_996816.3:p.Tyr1987Ter
Search 100 bp 5'
Search 100 bp 3'