Canonical Allele Identifier: CA344849700
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1006654
ClinVar RCV Id: RCV001303731
dbSNP Id: rs1662225276

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799065C>A , CM000663.2:g.215799065C>A GRCh38
NC_000001.10:g.215972407C>A , CM000663.1:g.215972407C>A GRCh37
NC_000001.9:g.214039030C>A NCBI36
NG_009497.1:g.629332G>T
NG_009497.2:g.629384G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9800G>T MANE Select ENSP00000305941.3:p.Cys3267Phe
ENST00000674083.1:c.9800G>T ENSP00000501296.1:p.Cys3267Phe
ENST00000307340.7:c.9800G>T ENSP00000305941.3:p.Cys3267Phe
NM_206933.2:c.9800G>T NP_996816.2:p.Cys3267Phe
NM_206933.3:c.9800G>T NP_996816.2:p.Cys3267Phe
NM_206933.4:c.9800G>T MANE Select NP_996816.3:p.Cys3267Phe