Canonical Allele Identifier: CA1220542883

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070434A= , CM000663.2:g.216070434A=	GRCh38
NC_000001.10:g.216243776A= , CM000663.1:g.216243776A=	GRCh37
NC_000001.9:g.214310399A=	NCBI36
NG_009497.1:g.357963T=
NG_009497.2:g.358015T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-142T= MANE Select	ENSP00000305941.3:n.5858-142T=
ENST00000674083.1:c.5858-142T=	ENSP00000501296.1:n.5858-142T=
ENST00000307340.7:c.5858-142T=	ENSP00000305941.3:n.5858-142T=
NM_206933.2:c.5858-142T=	NP_996816.2:n.5858-142T=
NM_206933.3:c.5858-142T=	NP_996816.2:n.5858-142T=
NM_206933.4:c.5858-142T= MANE Select	NP_996816.3:n.5858-142T=