Canonical Allele Identifier: CA344836162
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1486818
ClinVar RCV Id: RCV002030752
dbSNP Id: rs111033265
MyVariant Identifiers: chr1:g.215955400C>G (hg19) chr1:g.215782058C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782058C>G , CM000663.2:g.215782058C>G GRCh38
NC_000001.10:g.215955400C>G , CM000663.1:g.215955400C>G GRCh37
NC_000001.9:g.214022023C>G NCBI36
NG_009497.1:g.646339G>C
NG_009497.2:g.646391G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10724G>C MANE Select ENSP00000305941.3:p.Cys3575Ser
ENST00000674083.1:c.10724G>C ENSP00000501296.1:p.Cys3575Ser
ENST00000307340.7:c.10724G>C ENSP00000305941.3:p.Cys3575Ser
NM_206933.2:c.10724G>C NP_996816.2:p.Cys3575Ser
NM_206933.3:c.10724G>C NP_996816.2:p.Cys3575Ser
NM_206933.4:c.10724G>C MANE Select NP_996816.3:p.Cys3575Ser
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