Canonical Allele Identifier: CA1142076640

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671072G= , CM000663.2:g.215671072G=	GRCh38
NC_000001.10:g.215844414G= , CM000663.1:g.215844414G=	GRCh37
NC_000001.9:g.213911037G=	NCBI36
NG_009497.1:g.757325C=
NG_009497.2:g.757377C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14033C= MANE Select	ENSP00000305941.3:p.Ala4678=
ENST00000674083.1:c.14033C=	ENSP00000501296.1:p.Ala4678=
ENST00000307340.7:c.14033C=	ENSP00000305941.3:p.Ala4678=
NM_206933.2:c.14033C=	NP_996816.2:p.Ala4678=
NM_206933.3:c.14033C=	NP_996816.2:p.Ala4678=
NM_206933.4:c.14033C= MANE Select	NP_996816.3:p.Ala4678=