Canonical Allele Identifier: CA2650498069
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215640751-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640751G>A , CM000663.2:g.215640751G>A GRCh38
NC_000001.10:g.215814093G>A , CM000663.1:g.215814093G>A GRCh37
NC_000001.9:g.213880716G>A NCBI36
NG_009497.1:g.787646C>T
NG_009497.2:g.787698C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.14792-17C>T MANE Select ENSP00000305941.3:n.14792-17C>T
ENST00000674083.1:c.14792-17C>T ENSP00000501296.1:n.14792-17C>T
ENST00000307340.7:c.14792-17C>T ENSP00000305941.3:n.14792-17C>T
NM_206933.2:c.14792-17C>T NP_996816.2:n.14792-17C>T
NM_206933.3:c.14792-17C>T NP_996816.2:n.14792-17C>T
NM_206933.4:c.14792-17C>T MANE Select NP_996816.3:n.14792-17C>T
Search 100 bp 5'
Search 100 bp 3'