Canonical Allele Identifier: CA37437551

Gene: USH2A

Linked Data

• dbSNP Id: rs35283430

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782386dup , CM000663.2:g.215782386dup	GRCh38
NC_000001.10:g.215955728dup , CM000663.1:g.215955728dup	GRCh37
NC_000001.9:g.214022351dup	NCBI36
NG_009497.1:g.646013dup
NG_009497.2:g.646065dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-188dup MANE Select	ENSP00000305941.3:n.10586-188dup
ENST00000674083.1:c.10586-188dup	ENSP00000501296.1:n.10586-188dup
ENST00000307340.7:c.10586-188dup	ENSP00000305941.3:n.10586-188dup
NM_206933.2:c.10586-188dup	NP_996816.2:n.10586-188dup
NM_206933.3:c.10586-188dup	NP_996816.2:n.10586-188dup
NM_206933.4:c.10586-188dup MANE Select	NP_996816.3:n.10586-188dup