Canonical Allele Identifier: CA1012185429

Gene: USH2A

Linked Data

• dbSNP Id: rs1656665313
• gnomAD v3: 1-215640956-G-GA
• gnomAD v4: 1-215640956-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640959dup , CM000663.2:g.215640959dup	GRCh38
NC_000001.10:g.215814301dup , CM000663.1:g.215814301dup	GRCh37
NC_000001.9:g.213880924dup	NCBI36
NG_009497.1:g.787440dup
NG_009497.2:g.787492dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-223dup MANE Select	ENSP00000305941.3:n.14792-223dup
ENST00000674083.1:c.14792-223dup	ENSP00000501296.1:n.14792-223dup
ENST00000307340.7:c.14792-223dup	ENSP00000305941.3:n.14792-223dup
NM_206933.2:c.14792-223dup	NP_996816.2:n.14792-223dup
NM_206933.3:c.14792-223dup	NP_996816.2:n.14792-223dup
NM_206933.4:c.14792-223dup MANE Select	NP_996816.3:n.14792-223dup