Canonical Allele Identifier: CA1220416882
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782321A= , CM000663.2:g.215782321A= GRCh38
NC_000001.10:g.215955663A= , CM000663.1:g.215955663A= GRCh37
NC_000001.9:g.214022286A= NCBI36
NG_009497.1:g.646076T=
NG_009497.2:g.646128T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10586-125T= MANE Select ENSP00000305941.3:n.10586-125T=
ENST00000674083.1:c.10586-125T= ENSP00000501296.1:n.10586-125T=
ENST00000307340.7:c.10586-125T= ENSP00000305941.3:n.10586-125T=
NM_206933.2:c.10586-125T= NP_996816.2:n.10586-125T=
NM_206933.3:c.10586-125T= NP_996816.2:n.10586-125T=
NM_206933.4:c.10586-125T= MANE Select NP_996816.3:n.10586-125T=