Canonical Allele Identifier: CA1393579
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1712203
ClinVar RCV Id: RCV002293921
dbSNP Id: rs758420991
ExAC: 1:215901419 C / T
gnomAD v4: 1-215728077-C-T
COSMIC: COSM209893
MyVariant Identifiers: chr1:g.215901419C>T (hg19) chr1:g.215728077C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728077C>T , CM000663.2:g.215728077C>T GRCh38
NC_000001.10:g.215901419C>T , CM000663.1:g.215901419C>T GRCh37
NC_000001.9:g.213968042C>T NCBI36
NG_009497.1:g.700320G>A
NG_009497.2:g.700372G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12019G>A MANE Select ENSP00000305941.3:p.Asp4007Asn
ENST00000674083.1:c.12019G>A ENSP00000501296.1:p.Asp4007Asn
ENST00000307340.7:c.12019G>A ENSP00000305941.3:p.Asp4007Asn
NM_206933.2:c.12019G>A NP_996816.2:p.Asp4007Asn
NM_206933.3:c.12019G>A NP_996816.2:p.Asp4007Asn
NM_206933.4:c.12019G>A MANE Select NP_996816.3:p.Asp4007Asn
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