Canonical Allele Identifier: CA1220372151

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671086G= , CM000663.2:g.215671086G=	GRCh38
NC_000001.10:g.215844428G= , CM000663.1:g.215844428G=	GRCh37
NC_000001.9:g.213911051G=	NCBI36
NG_009497.1:g.757311C=
NG_009497.2:g.757363C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14019C= MANE Select	ENSP00000305941.3:p.Tyr4673=
ENST00000674083.1:c.14019C=	ENSP00000501296.1:p.Tyr4673=
ENST00000307340.7:c.14019C=	ENSP00000305941.3:p.Tyr4673=
NM_206933.2:c.14019C=	NP_996816.2:p.Tyr4673=
NM_206933.3:c.14019C=	NP_996816.2:p.Tyr4673=
NM_206933.4:c.14019C= MANE Select	NP_996816.3:p.Tyr4673=