Canonical Allele Identifier: CA1396257
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs762022161
ExAC: 1:216420481 T / C
gnomAD v2: 1-216420481-T-C
gnomAD v4: 1-216247139-T-C
MyVariant Identifiers: chr1:g.216420481T>C (hg19) chr1:g.216247139T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247139T>C , CM000663.2:g.216247139T>C GRCh38
NC_000001.10:g.216420481T>C , CM000663.1:g.216420481T>C GRCh37
NC_000001.9:g.214487104T>C NCBI36
NG_009497.1:g.181258A>G
NG_009497.2:g.181310A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2255A>G MANE Select ENSP00000305941.3:p.His752Arg
ENST00000674083.1:c.2255A>G ENSP00000501296.1:p.His752Arg
ENST00000307340.7:c.2255A>G ENSP00000305941.3:p.His752Arg
ENST00000366942.3:c.2255A>G ENSP00000355909.3:p.His752Arg
NM_007123.5:c.2255A>G NP_009054.5:p.His752Arg
NM_206933.2:c.2255A>G NP_996816.2:p.His752Arg
NM_206933.3:c.2255A>G NP_996816.2:p.His752Arg
NM_007123.6:c.2255A>G NP_009054.6:p.His752Arg
NM_206933.4:c.2255A>G MANE Select NP_996816.3:p.His752Arg
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Search 100 bp 3'