Canonical Allele Identifier: CA344851274
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1958953
ClinVar RCV Id: RCV002725725
gnomAD v4: 1-215675591-A-C
MyVariant Identifiers: chr1:g.215848933A>C (hg19) chr1:g.215675591A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675591A>C , CM000663.2:g.215675591A>C GRCh38
NC_000001.10:g.215848933A>C , CM000663.1:g.215848933A>C GRCh37
NC_000001.9:g.213915556A>C NCBI36
NG_009497.1:g.752806T>G
NG_009497.2:g.752858T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12320T>G MANE Select ENSP00000305941.3:p.Phe4107Cys
ENST00000674083.1:c.12320T>G ENSP00000501296.1:p.Phe4107Cys
ENST00000307340.7:c.12320T>G ENSP00000305941.3:p.Phe4107Cys
NM_206933.2:c.12320T>G NP_996816.2:p.Phe4107Cys
NM_206933.3:c.12320T>G NP_996816.2:p.Phe4107Cys
NM_206933.4:c.12320T>G MANE Select NP_996816.3:p.Phe4107Cys
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