Canonical Allele Identifier: CA1220434301

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817018A= , CM000663.2:g.215817018A=	GRCh38
NC_000001.10:g.215990360A= , CM000663.1:g.215990360A=	GRCh37
NC_000001.9:g.214056983A=	NCBI36
NG_009497.1:g.611379T=
NG_009497.2:g.611431T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9549T= MANE Select	ENSP00000305941.3:p.Ile3183=
ENST00000674083.1:c.9549T=	ENSP00000501296.1:p.Ile3183=
ENST00000307340.7:c.9549T=	ENSP00000305941.3:p.Ile3183=
NM_206933.2:c.9549T=	NP_996816.2:p.Ile3183=
NM_206933.3:c.9549T=	NP_996816.2:p.Ile3183=
NM_206933.4:c.9549T= MANE Select	NP_996816.3:p.Ile3183=