Canonical Allele Identifier: CA1396564
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1913735
ClinVar RCV Id: RCV002589916
dbSNP Id: rs758476981
ExAC: 1:216497583 A / G
gnomAD v2: 1-216497583-A-G
gnomAD v4: 1-216324241-A-G
MyVariant Identifiers: chr1:g.216497583A>G (hg19) chr1:g.216324241A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216324241A>G , CM000663.2:g.216324241A>G GRCh38
NC_000001.10:g.216497583A>G , CM000663.1:g.216497583A>G GRCh37
NC_000001.9:g.214564206A>G NCBI36
NG_009497.1:g.104156T>C
NG_009497.2:g.104208T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.1255T>C MANE Select ENSP00000305941.3:p.Cys419Arg
ENST00000674083.1:c.1255T>C ENSP00000501296.1:p.Cys419Arg
ENST00000307340.7:c.1255T>C ENSP00000305941.3:p.Cys419Arg
ENST00000366942.3:c.1255T>C ENSP00000355909.3:p.Cys419Arg
NM_007123.5:c.1255T>C NP_009054.5:p.Cys419Arg
NM_206933.2:c.1255T>C NP_996816.2:p.Cys419Arg
NM_206933.3:c.1255T>C NP_996816.2:p.Cys419Arg
NM_007123.6:c.1255T>C NP_009054.6:p.Cys419Arg
NM_206933.4:c.1255T>C MANE Select NP_996816.3:p.Cys419Arg
Search 100 bp 5'
Search 100 bp 3'