Canonical Allele Identifier: CA1220461530

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215878792G= , CM000663.2:g.215878792G=	GRCh38
NC_000001.10:g.216052134G= , CM000663.1:g.216052134G=	GRCh37
NC_000001.9:g.214118757G=	NCBI36
NG_009497.1:g.549605C=
NG_009497.2:g.549657C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.8530C= MANE Select	ENSP00000305941.3:p.Pro2844=
ENST00000674083.1:c.8530C=	ENSP00000501296.1:p.Pro2844=
ENST00000307340.7:c.8530C=	ENSP00000305941.3:p.Pro2844=
NM_206933.2:c.8530C=	NP_996816.2:p.Pro2844=
NM_206933.3:c.8530C=	NP_996816.2:p.Pro2844=
NM_206933.4:c.8530C= MANE Select	NP_996816.3:p.Pro2844=