Canonical Allele Identifier: CA248657

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48547
• ClinVar RCV Id: RCV000041873 ; RCV000585540 ; RCV000787924 ; RCV000669397 ; RCV001273044 ; RCV004537154
• dbSNP Id: rs41303287
• ExAC: 1:216243517 T / C
• gnomAD v2: 1-216243517-T-C
• gnomAD v3: 1-216070175-T-C
• gnomAD v4: 1-216070175-T-C
• MyVariant Identifiers: chr1:g.216243517T>C (hg19) ; chr1:g.216070175T>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070175T>C , CM000663.2:g.216070175T>C	GRCh38
NC_000001.10:g.216243517T>C , CM000663.1:g.216243517T>C	GRCh37
NC_000001.9:g.214310140T>C	NCBI36
NG_009497.1:g.358222A>G
NG_009497.2:g.358274A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5975A>G MANE Select	ENSP00000305941.3:p.Tyr1992Cys
ENST00000674083.1:c.5975A>G	ENSP00000501296.1:p.Tyr1992Cys
ENST00000307340.7:c.5975A>G	ENSP00000305941.3:p.Tyr1992Cys
NM_206933.2:c.5975A>G	NP_996816.2:p.Tyr1992Cys
NM_206933.3:c.5975A>G	NP_996816.2:p.Tyr1992Cys
NM_206933.4:c.5975A>G MANE Select	NP_996816.3:p.Tyr1992Cys