Canonical Allele Identifier: CA1220412582

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766586C= , CM000663.2:g.215766586C=	GRCh38
NC_000001.10:g.215939928C= , CM000663.1:g.215939928C=	GRCh37
NC_000001.9:g.214006551C=	NCBI36
NG_009497.1:g.661811G=
NG_009497.2:g.661863G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11047+95G= MANE Select	ENSP00000305941.3:n.11047+95G=
ENST00000674083.1:c.11047+95G=	ENSP00000501296.1:n.11047+95G=
ENST00000307340.7:c.11047+95G=	ENSP00000305941.3:n.11047+95G=
NM_206933.2:c.11047+95G=	NP_996816.2:n.11047+95G=
NM_206933.3:c.11047+95G=	NP_996816.2:n.11047+95G=
NM_206933.4:c.11047+95G= MANE Select	NP_996816.3:n.11047+95G=