Canonical Allele Identifier: CA1142955932

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324250C= , CM000663.2:g.216324250C=	GRCh38
NC_000001.10:g.216497592C= , CM000663.1:g.216497592C=	GRCh37
NC_000001.9:g.214564215C=	NCBI36
NG_009497.1:g.104147G=
NG_009497.2:g.104199G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1246G= MANE Select	ENSP00000305941.3:p.Ala416=
ENST00000674083.1:c.1246G=	ENSP00000501296.1:p.Ala416=
ENST00000307340.7:c.1246G=	ENSP00000305941.3:p.Ala416=
ENST00000366942.3:c.1246G=	ENSP00000355909.3:p.Ala416=
NM_007123.5:c.1246G=	NP_009054.5:p.Ala416=
NM_206933.2:c.1246G=	NP_996816.2:p.Ala416=
NM_206933.3:c.1246G=	NP_996816.2:p.Ala416=
NM_007123.6:c.1246G=	NP_009054.6:p.Ala416=
NM_206933.4:c.1246G= MANE Select	NP_996816.3:p.Ala416=