Canonical Allele Identifier: CA1220359709

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640632A= , CM000663.2:g.215640632A=	GRCh38
NC_000001.10:g.215813974A= , CM000663.1:g.215813974A=	GRCh37
NC_000001.9:g.213880597A=	NCBI36
NG_009497.1:g.787765T=
NG_009497.2:g.787817T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.14894T= MANE Select	ENSP00000305941.3:p.Val4965=
ENST00000674083.1:c.14894T=	ENSP00000501296.1:p.Val4965=
ENST00000307340.7:c.14894T=	ENSP00000305941.3:p.Val4965=
NM_206933.2:c.14894T=	NP_996816.2:p.Val4965=
NM_206933.3:c.14894T=	NP_996816.2:p.Val4965=
NM_206933.4:c.14894T= MANE Select	NP_996816.3:p.Val4965=