Canonical Allele Identifier: CA1220542834
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070296T= , CM000663.2:g.216070296T= GRCh38
NC_000001.10:g.216243638T= , CM000663.1:g.216243638T= GRCh37
NC_000001.9:g.214310261T= NCBI36
NG_009497.1:g.358101A=
NG_009497.2:g.358153A=

Transcript Alleles

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