Canonical Allele Identifier: CA2839451575
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215766674dup , CM000663.2:g.215766674dup GRCh38
NC_000001.10:g.215940016dup , CM000663.1:g.215940016dup GRCh37
NC_000001.9:g.214006639dup NCBI36
NG_009497.1:g.661725dup
NG_009497.2:g.661777dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11047+9dup MANE Select ENSP00000305941.3:n.11047+9dup
ENST00000674083.1:c.11047+9dup ENSP00000501296.1:n.11047+9dup
ENST00000307340.7:c.11047+9dup ENSP00000305941.3:n.11047+9dup
NM_206933.2:c.11047+9dup NP_996816.2:n.11047+9dup
NM_206933.3:c.11047+9dup NP_996816.2:n.11047+9dup
NM_206933.4:c.11047+9dup MANE Select NP_996816.3:n.11047+9dup