Canonical Allele Identifier: CA916402777

Gene: USH2A

Linked Data

• dbSNP Id: rs756861779
• gnomAD v3: 1-215671372-T-TAA
• gnomAD v4: 1-215671372-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671381_215671382dup , CM000663.2:g.215671381_215671382dup	GRCh38
NC_000001.10:g.215844723_215844724dup , CM000663.1:g.215844723_215844724dup	GRCh37
NC_000001.9:g.213911346_213911347dup	NCBI36
NG_009497.1:g.757023_757024dup
NG_009497.2:g.757075_757076dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-81_13812-80dup MANE Select	ENSP00000305941.3:n.13812-81_13812-80dup
ENST00000674083.1:c.13812-81_13812-80dup	ENSP00000501296.1:n.13812-81_13812-80dup
ENST00000307340.7:c.13812-81_13812-80dup	ENSP00000305941.3:n.13812-81_13812-80dup
NM_206933.2:c.13812-81_13812-80dup	NP_996816.2:n.13812-81_13812-80dup
NM_206933.3:c.13812-81_13812-80dup	NP_996816.2:n.13812-81_13812-80dup
NM_206933.4:c.13812-81_13812-80dup MANE Select	NP_996816.3:n.13812-81_13812-80dup