Canonical Allele Identifier: CA2580062039

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2113744
• ClinVar RCV Id: RCV003038930

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215743173dup , CM000663.2:g.215743173dup	GRCh38
NC_000001.10:g.215916515dup , CM000663.1:g.215916515dup	GRCh37
NC_000001.9:g.213983138dup	NCBI36
NG_009497.1:g.685226dup
NG_009497.2:g.685278dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11548+6dup MANE Select	ENSP00000305941.3:n.11548+6dup
ENST00000674083.1:c.11548+6dup	ENSP00000501296.1:n.11548+6dup
ENST00000307340.7:c.11548+6dup	ENSP00000305941.3:n.11548+6dup
NM_206933.2:c.11548+6dup	NP_996816.2:n.11548+6dup
NM_206933.3:c.11548+6dup	NP_996816.2:n.11548+6dup
NM_206933.4:c.11548+6dup MANE Select	NP_996816.3:n.11548+6dup