Canonical Allele Identifier: CA2650499693

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640871-A-ACATTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640872_215640877dup , CM000663.2:g.215640872_215640877dup	GRCh38
NC_000001.10:g.215814214_215814219dup , CM000663.1:g.215814214_215814219dup	GRCh37
NC_000001.9:g.213880837_213880842dup	NCBI36
NG_009497.1:g.787520_787525dup
NG_009497.2:g.787572_787577dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-143_14792-138dup MANE Select	ENSP00000305941.3:n.14792-143_14792-138dup
ENST00000674083.1:c.14792-143_14792-138dup	ENSP00000501296.1:n.14792-143_14792-138dup
ENST00000307340.7:c.14792-143_14792-138dup	ENSP00000305941.3:n.14792-143_14792-138dup
NM_206933.2:c.14792-143_14792-138dup	NP_996816.2:n.14792-143_14792-138dup
NM_206933.3:c.14792-143_14792-138dup	NP_996816.2:n.14792-143_14792-138dup
NM_206933.4:c.14792-143_14792-138dup MANE Select	NP_996816.3:n.14792-143_14792-138dup