Canonical Allele Identifier: CA2650527037

Gene: USH2A

Linked Data

• gnomAD v4: 1-215781923-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215781925dup , CM000663.2:g.215781925dup	GRCh38
NC_000001.10:g.215955267dup , CM000663.1:g.215955267dup	GRCh37
NC_000001.9:g.214021890dup	NCBI36
NG_009497.1:g.646473dup
NG_009497.2:g.646525dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10740+118dup MANE Select	ENSP00000305941.3:n.10740+118dup
ENST00000674083.1:c.10740+118dup	ENSP00000501296.1:n.10740+118dup
ENST00000307340.7:c.10740+118dup	ENSP00000305941.3:n.10740+118dup
NM_206933.2:c.10740+118dup	NP_996816.2:n.10740+118dup
NM_206933.3:c.10740+118dup	NP_996816.2:n.10740+118dup
NM_206933.4:c.10740+118dup MANE Select	NP_996816.3:n.10740+118dup