Canonical Allele Identifier: CA344849798
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 438007
ClinVar RCV Id: RCV000504791
dbSNP Id: rs745371873

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675216G>T , CM000663.2:g.215675216G>T GRCh38
NC_000001.10:g.215848558G>T , CM000663.1:g.215848558G>T GRCh37
NC_000001.9:g.213915181G>T NCBI36
NG_009497.1:g.753181C>A
NG_009497.2:g.753233C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12695C>A MANE Select ENSP00000305941.3:p.Pro4232Gln
ENST00000674083.1:c.12695C>A ENSP00000501296.1:p.Pro4232Gln
ENST00000307340.7:c.12695C>A ENSP00000305941.3:p.Pro4232Gln
NM_206933.2:c.12695C>A NP_996816.2:p.Pro4232Gln
NM_206933.3:c.12695C>A NP_996816.2:p.Pro4232Gln
NM_206933.4:c.12695C>A MANE Select NP_996816.3:p.Pro4232Gln