Canonical Allele Identifier: CA344825421
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1961193
ClinVar RCV Id: RCV002734794

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817179A>C , CM000663.2:g.215817179A>C GRCh38
NC_000001.10:g.215990521A>C , CM000663.1:g.215990521A>C GRCh37
NC_000001.9:g.214057144A>C NCBI36
NG_009497.1:g.611218T>G
NG_009497.2:g.611270T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9388T>G MANE Select ENSP00000305941.3:p.Trp3130Gly
ENST00000674083.1:c.9388T>G ENSP00000501296.1:p.Trp3130Gly
ENST00000307340.7:c.9388T>G ENSP00000305941.3:p.Trp3130Gly
NM_206933.2:c.9388T>G NP_996816.2:p.Trp3130Gly
NM_206933.3:c.9388T>G NP_996816.2:p.Trp3130Gly
NM_206933.4:c.9388T>G MANE Select NP_996816.3:p.Trp3130Gly