Canonical Allele Identifier: CA1220414730
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215780008T= , CM000663.2:g.215780008T= GRCh38
NC_000001.10:g.215953350T= , CM000663.1:g.215953350T= GRCh37
NC_000001.9:g.214019973T= NCBI36
NG_009497.1:g.648389A=
NG_009497.2:g.648441A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10774A= MANE Select ENSP00000305941.3:p.Ser3592=
ENST00000674083.1:c.10774A= ENSP00000501296.1:p.Ser3592=
ENST00000307340.7:c.10774A= ENSP00000305941.3:p.Ser3592=
NM_206933.2:c.10774A= NP_996816.2:p.Ser3592=
NM_206933.3:c.10774A= NP_996816.2:p.Ser3592=
NM_206933.4:c.10774A= MANE Select NP_996816.3:p.Ser3592=