Canonical Allele Identifier: CA2650502882
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215766860del , CM000663.2:g.215766860del GRCh38
NC_000001.10:g.215940202del , CM000663.1:g.215940202del GRCh37
NC_000001.9:g.214006825del NCBI36
NG_009497.1:g.661538del
NG_009497.2:g.661590del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10940-71del MANE Select ENSP00000305941.3:n.10940-71del
ENST00000674083.1:c.10940-71del ENSP00000501296.1:n.10940-71del
ENST00000307340.7:c.10940-71del ENSP00000305941.3:n.10940-71del
NM_206933.2:c.10940-71del NP_996816.2:n.10940-71del
NM_206933.3:c.10940-71del NP_996816.2:n.10940-71del
NM_206933.4:c.10940-71del MANE Select NP_996816.3:n.10940-71del