Canonical Allele Identifier: CA269919
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 133313
ClinVar RCV Id: RCV000119825 RCV000444053 RCV003453052
dbSNP Id: rs483353056
gnomAD v4: 1-215900194-G-T
MyVariant Identifiers: chr1:g.216073536G>T (hg19) chr1:g.215900194G>T (hg38)
PubMed: PMID:25991456
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215900194G>T , CM000663.2:g.215900194G>T GRCh38
NC_000001.10:g.216073536G>T , CM000663.1:g.216073536G>T GRCh37
NC_000001.9:g.214140159G>T NCBI36
NG_009497.1:g.528203C>A
NG_009497.2:g.528255C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.7475C>A MANE Select ENSP00000305941.3:p.Ser2492Ter
ENST00000674083.1:c.7475C>A ENSP00000501296.1:p.Ser2492Ter
ENST00000307340.7:c.7475C>A ENSP00000305941.3:p.Ser2492Ter
NM_206933.2:c.7475C>A NP_996816.2:p.Ser2492Ter
NM_206933.3:c.7475C>A NP_996816.2:p.Ser2492Ter
NM_206933.4:c.7475C>A MANE Select NP_996816.3:p.Ser2492Ter
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