Canonical Allele Identifier: CA2574001812

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2848764
• ClinVar RCV Id: RCV003695404

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640754del , CM000663.2:g.215640754del	GRCh38
NC_000001.10:g.215814096del , CM000663.1:g.215814096del	GRCh37
NC_000001.9:g.213880719del	NCBI36
NG_009497.1:g.787643del
NG_009497.2:g.787695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-20del MANE Select	ENSP00000305941.3:n.14792-20del
ENST00000674083.1:c.14792-20del	ENSP00000501296.1:n.14792-20del
ENST00000307340.7:c.14792-20del	ENSP00000305941.3:n.14792-20del
NM_206933.2:c.14792-20del	NP_996816.2:n.14792-20del
NM_206933.3:c.14792-20del	NP_996816.2:n.14792-20del
NM_206933.4:c.14792-20del MANE Select	NP_996816.3:n.14792-20del