Canonical Allele Identifier: CA1220434330

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817100G= , CM000663.2:g.215817100G=	GRCh38
NC_000001.10:g.215990442G= , CM000663.1:g.215990442G=	GRCh37
NC_000001.9:g.214057065G=	NCBI36
NG_009497.1:g.611297C=
NG_009497.2:g.611349C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9467C= MANE Select	ENSP00000305941.3:p.Thr3156=
ENST00000674083.1:c.9467C=	ENSP00000501296.1:p.Thr3156=
ENST00000307340.7:c.9467C=	ENSP00000305941.3:p.Thr3156=
NM_206933.2:c.9467C=	NP_996816.2:p.Thr3156=
NM_206933.3:c.9467C=	NP_996816.2:p.Thr3156=
NM_206933.4:c.9467C= MANE Select	NP_996816.3:p.Thr3156=