Canonical Allele Identifier: CA1144085789

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070203C= , CM000663.2:g.216070203C=	GRCh38
NC_000001.10:g.216243545C= , CM000663.1:g.216243545C=	GRCh37
NC_000001.9:g.214310168C=	NCBI36
NG_009497.1:g.358194G=
NG_009497.2:g.358246G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.5947G= MANE Select	ENSP00000305941.3:p.Val1983=
ENST00000674083.1:c.5947G=	ENSP00000501296.1:p.Val1983=
ENST00000307340.7:c.5947G=	ENSP00000305941.3:p.Val1983=
NM_206933.2:c.5947G=	NP_996816.2:p.Val1983=
NM_206933.3:c.5947G=	NP_996816.2:p.Val1983=
NM_206933.4:c.5947G= MANE Select	NP_996816.3:p.Val1983=