Canonical Allele Identifier: CA37501495
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs61747101
MyVariant Identifiers: chr1:g.216420462G>C (hg19) chr1:g.216247120G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247120G>C , CM000663.2:g.216247120G>C GRCh38
NC_000001.10:g.216420462G>C , CM000663.1:g.216420462G>C GRCh37
NC_000001.9:g.214487085G>C NCBI36
NG_009497.1:g.181277C>G
NG_009497.2:g.181329C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2274C>G MANE Select ENSP00000305941.3:p.Phe758Leu
ENST00000674083.1:c.2274C>G ENSP00000501296.1:p.Phe758Leu
ENST00000307340.7:c.2274C>G ENSP00000305941.3:p.Phe758Leu
ENST00000366942.3:c.2274C>G ENSP00000355909.3:p.Phe758Leu
NM_007123.5:c.2274C>G NP_009054.5:p.Phe758Leu
NM_206933.2:c.2274C>G NP_996816.2:p.Phe758Leu
NM_206933.3:c.2274C>G NP_996816.2:p.Phe758Leu
NM_007123.6:c.2274C>G NP_009054.6:p.Phe758Leu
NM_206933.4:c.2274C>G MANE Select NP_996816.3:p.Phe758Leu
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