Canonical Allele Identifier: CA1220359779
Gene: USH2A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640796A= , CM000663.2:g.215640796A= GRCh38
NC_000001.10:g.215814138A= , CM000663.1:g.215814138A= GRCh37
NC_000001.9:g.213880761A= NCBI36
NG_009497.1:g.787601T=
NG_009497.2:g.787653T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-62T= MANE Select ENSP00000305941.3:n.14792-62T=
ENST00000674083.1:c.14792-62T= ENSP00000501296.1:n.14792-62T=
ENST00000307340.7:c.14792-62T= ENSP00000305941.3:n.14792-62T=
NM_206933.2:c.14792-62T= NP_996816.2:n.14792-62T=
NM_206933.3:c.14792-62T= NP_996816.2:n.14792-62T=
NM_206933.4:c.14792-62T= MANE Select NP_996816.3:n.14792-62T=
Search 100 bp 5'
Search 100 bp 3'