Canonical Allele Identifier: CA1012185233

Gene: USH2A

Linked Data

• dbSNP Id: rs56212994
• gnomAD v3: 1-215640844-C-CAAAAAAAAAAA
• gnomAD v4: 1-215640844-C-CAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640852_215640862dup , CM000663.2:g.215640852_215640862dup	GRCh38
NC_000001.10:g.215814194_215814204dup , CM000663.1:g.215814194_215814204dup	GRCh37
NC_000001.9:g.213880817_213880827dup	NCBI36
NG_009497.1:g.787542_787552dup
NG_009497.2:g.787594_787604dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-121_14792-111dup MANE Select	ENSP00000305941.3:n.14792-121_14792-111dup
ENST00000674083.1:c.14792-121_14792-111dup	ENSP00000501296.1:n.14792-121_14792-111dup
ENST00000307340.7:c.14792-121_14792-111dup	ENSP00000305941.3:n.14792-121_14792-111dup
NM_206933.2:c.14792-121_14792-111dup	NP_996816.2:n.14792-121_14792-111dup
NM_206933.3:c.14792-121_14792-111dup	NP_996816.2:n.14792-121_14792-111dup
NM_206933.4:c.14792-121_14792-111dup MANE Select	NP_996816.3:n.14792-121_14792-111dup