Canonical Allele Identifier: CA1220425906

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215798907C= , CM000663.2:g.215798907C=	GRCh38
NC_000001.10:g.215972249C= , CM000663.1:g.215972249C=	GRCh37
NC_000001.9:g.214038872C=	NCBI36
NG_009497.1:g.629490G=
NG_009497.2:g.629542G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.9958G= MANE Select	ENSP00000305941.3:p.Gly3320=
ENST00000674083.1:c.9958G=	ENSP00000501296.1:p.Gly3320=
ENST00000307340.7:c.9958G=	ENSP00000305941.3:p.Gly3320=
NM_206933.2:c.9958G=	NP_996816.2:p.Gly3320=
NM_206933.3:c.9958G=	NP_996816.2:p.Gly3320=
NM_206933.4:c.9958G= MANE Select	NP_996816.3:p.Gly3320=