Canonical Allele Identifier: CA1220652421

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324147A= , CM000663.2:g.216324147A=	GRCh38
NC_000001.10:g.216497489A= , CM000663.1:g.216497489A=	GRCh37
NC_000001.9:g.214564112A=	NCBI36
NG_009497.1:g.104250T=
NG_009497.2:g.104302T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1328+21T= MANE Select	ENSP00000305941.3:n.1328+21T=
ENST00000674083.1:c.1328+21T=	ENSP00000501296.1:n.1328+21T=
ENST00000307340.7:c.1328+21T=	ENSP00000305941.3:n.1328+21T=
ENST00000366942.3:c.1328+21T=	ENSP00000355909.3:n.1328+21T=
NM_007123.5:c.1328+21T=	NP_009054.5:n.1328+21T=
NM_206933.2:c.1328+21T=	NP_996816.2:n.1328+21T=
NM_206933.3:c.1328+21T=	NP_996816.2:n.1328+21T=
NM_007123.6:c.1328+21T=	NP_009054.6:n.1328+21T=
NM_206933.4:c.1328+21T= MANE Select	NP_996816.3:n.1328+21T=