Canonical Allele Identifier: CA423317301
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215934680C>A , CM000663.2:g.215934680C>A GRCh38
NC_000001.10:g.216108022C>A , CM000663.1:g.216108022C>A GRCh37
NC_000001.9:g.214174645C>A NCBI36
NG_009497.1:g.493717G>T
NG_009497.2:g.493769G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.7236G>T MANE Select ENSP00000305941.3:p.Val2412=
ENST00000674083.1:c.7236G>T ENSP00000501296.1:p.Val2412=
ENST00000307340.7:c.7236G>T ENSP00000305941.3:p.Val2412=
NM_206933.2:c.7236G>T NP_996816.2:p.Val2412=
NM_206933.3:c.7236G>T NP_996816.2:p.Val2412=
NM_206933.4:c.7236G>T MANE Select NP_996816.3:p.Val2412=