Canonical Allele Identifier: CA10609866

Gene: USH2A

Linked Data

• ClinVar Variation Id: 295443
• ClinVar RCV Id: RCV000348183 ; RCV000395845
• dbSNP Id: rs775075026
• MyVariant Identifiers: chr1:g.216497511T>C (hg19) ; chr1:g.216324169T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324169T>C , CM000663.2:g.216324169T>C	GRCh38
NC_000001.10:g.216497511T>C , CM000663.1:g.216497511T>C	GRCh37
NC_000001.9:g.214564134T>C	NCBI36
NG_009497.1:g.104228A>G
NG_009497.2:g.104280A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1327A>G MANE Select	ENSP00000305941.3:p.Asn443Asp
ENST00000674083.1:c.1327A>G	ENSP00000501296.1:p.Asn443Asp
ENST00000307340.7:c.1327A>G	ENSP00000305941.3:p.Asn443Asp
ENST00000366942.3:c.1327A>G	ENSP00000355909.3:p.Asn443Asp
NM_007123.5:c.1327A>G	NP_009054.5:p.Asn443Asp
NM_206933.2:c.1327A>G	NP_996816.2:p.Asn443Asp
NM_206933.3:c.1327A>G	NP_996816.2:p.Asn443Asp
NM_007123.6:c.1327A>G	NP_009054.6:p.Asn443Asp
NM_206933.4:c.1327A>G MANE Select	NP_996816.3:p.Asn443Asp