Canonical Allele Identifier: CA1393854
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 225512
ClinVar RCV Id: RCV000505039 RCV000490445 RCV003454559 RCV003888648 RCV002515601 RCV002503836
dbSNP Id: rs150822759
ExAC: 1:215940071 T / G
gnomAD v2: 1-215940071-T-G
gnomAD v3: 1-215766729-T-G
gnomAD v4: 1-215766729-T-G
MyVariant Identifiers: chr1:g.215940071T>G (hg19) chr1:g.215766729T>G (hg38)
PubMed: PMID:23967202 PMID:28041643
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215766729T>G , CM000663.2:g.215766729T>G GRCh38
NC_000001.10:g.215940071T>G , CM000663.1:g.215940071T>G GRCh37
NC_000001.9:g.214006694T>G NCBI36
NG_009497.1:g.661668A>C
NG_009497.2:g.661720A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10999A>C MANE Select ENSP00000305941.3:p.Thr3667Pro
ENST00000674083.1:c.10999A>C ENSP00000501296.1:p.Thr3667Pro
ENST00000307340.7:c.10999A>C ENSP00000305941.3:p.Thr3667Pro
NM_206933.2:c.10999A>C NP_996816.2:p.Thr3667Pro
NM_206933.3:c.10999A>C NP_996816.2:p.Thr3667Pro
NM_206933.4:c.10999A>C MANE Select NP_996816.3:p.Thr3667Pro
Search 100 bp 5'
Search 100 bp 3'