Canonical Allele Identifier: CA1220542837
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070303A= , CM000663.2:g.216070303A= GRCh38
NC_000001.10:g.216243645A= , CM000663.1:g.216243645A= GRCh37
NC_000001.9:g.214310268A= NCBI36
NG_009497.1:g.358094T=
NG_009497.2:g.358146T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5858-11T= MANE Select ENSP00000305941.3:n.5858-11T=
ENST00000674083.1:c.5858-11T= ENSP00000501296.1:n.5858-11T=
ENST00000307340.7:c.5858-11T= ENSP00000305941.3:n.5858-11T=
NM_206933.2:c.5858-11T= NP_996816.2:n.5858-11T=
NM_206933.3:c.5858-11T= NP_996816.2:n.5858-11T=
NM_206933.4:c.5858-11T= MANE Select NP_996816.3:n.5858-11T=