Canonical Allele Identifier: CA1220373569

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674474A= , CM000663.2:g.215674474A=	GRCh38
NC_000001.10:g.215847816A= , CM000663.1:g.215847816A=	GRCh37
NC_000001.9:g.213914439A=	NCBI36
NG_009497.1:g.753923T=
NG_009497.2:g.753975T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13437T= MANE Select	ENSP00000305941.3:p.Leu4479=
ENST00000674083.1:c.13437T=	ENSP00000501296.1:p.Leu4479=
ENST00000307340.7:c.13437T=	ENSP00000305941.3:p.Leu4479=
NM_206933.2:c.13437T=	NP_996816.2:p.Leu4479=
NM_206933.3:c.13437T=	NP_996816.2:p.Leu4479=
NM_206933.4:c.13437T= MANE Select	NP_996816.3:p.Leu4479=