Canonical Allele Identifier: CA1220412856

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766785A= , CM000663.2:g.215766785A=	GRCh38
NC_000001.10:g.215940127A= , CM000663.1:g.215940127A=	GRCh37
NC_000001.9:g.214006750A=	NCBI36
NG_009497.1:g.661612T=
NG_009497.2:g.661664T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10943T= MANE Select	ENSP00000305941.3:p.Leu3648=
ENST00000674083.1:c.10943T=	ENSP00000501296.1:p.Leu3648=
ENST00000307340.7:c.10943T=	ENSP00000305941.3:p.Leu3648=
NM_206933.2:c.10943T=	NP_996816.2:p.Leu3648=
NM_206933.3:c.10943T=	NP_996816.2:p.Leu3648=
NM_206933.4:c.10943T= MANE Select	NP_996816.3:p.Leu3648=