Canonical Allele Identifier: CA143403
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48465
ClinVar RCV Id: RCV000041788 RCV001276136 RCV002504925 RCV002513599 RCV003460550
dbSNP Id: rs111033419
ExAC: 1:215802179 T / C
gnomAD v2: 1-215802179-T-C
gnomAD v3: 1-215628837-T-C
gnomAD v4: 1-215628837-T-C
MyVariant Identifiers: chr1:g.215802179T>C (hg19) chr1:g.215628837T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215628837T>C , CM000663.2:g.215628837T>C GRCh38
NC_000001.10:g.215802179T>C , CM000663.1:g.215802179T>C GRCh37
NC_000001.9:g.213868802T>C NCBI36
NG_009497.1:g.799560A>G
NG_009497.2:g.799612A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.15496A>G MANE Select ENSP00000305941.3:p.Ile5166Val
ENST00000674083.1:c.15568A>G ENSP00000501296.1:p.Ile5190Val
ENST00000307340.7:c.15496A>G ENSP00000305941.3:p.Ile5166Val
NM_206933.2:c.15496A>G NP_996816.2:p.Ile5166Val
NM_206933.3:c.15496A>G NP_996816.2:p.Ile5166Val
NM_206933.4:c.15496A>G MANE Select NP_996816.3:p.Ile5166Val
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