Canonical Allele Identifier: CA2574002360
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640815_215640816del , CM000663.2:g.215640815_215640816del GRCh38
NC_000001.10:g.215814157_215814158del , CM000663.1:g.215814157_215814158del GRCh37
NC_000001.9:g.213880780_213880781del NCBI36
NG_009497.1:g.787581_787582del
NG_009497.2:g.787633_787634del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-82_14792-81del MANE Select ENSP00000305941.3:n.14792-82_14792-81del
ENST00000674083.1:c.14792-82_14792-81del ENSP00000501296.1:n.14792-82_14792-81del
ENST00000307340.7:c.14792-82_14792-81del ENSP00000305941.3:n.14792-82_14792-81del
NM_206933.2:c.14792-82_14792-81del NP_996816.2:n.14792-82_14792-81del
NM_206933.3:c.14792-82_14792-81del NP_996816.2:n.14792-82_14792-81del
NM_206933.4:c.14792-82_14792-81del MANE Select NP_996816.3:n.14792-82_14792-81del