Canonical Allele Identifier: CA1393854

Gene: USH2A

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

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