Canonical Allele Identifier: CA1394497
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 838530
ClinVar RCV Id: RCV001040095 RCV001276965
dbSNP Id: rs763232931
ExAC: 1:216040370 C / T
gnomAD v2: 1-216040370-C-T
gnomAD v3: 1-215867028-C-T
gnomAD v4: 1-215867028-C-T
MyVariant Identifiers: chr1:g.216040370C>T (hg19) chr1:g.215867028C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867028C>T , CM000663.2:g.215867028C>T GRCh38
NC_000001.10:g.216040370C>T , CM000663.1:g.216040370C>T GRCh37
NC_000001.9:g.214106993C>T NCBI36
NG_009497.1:g.561369G>A
NG_009497.2:g.561421G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8824G>A MANE Select ENSP00000305941.3:p.Asp2942Asn
ENST00000674083.1:c.8824G>A ENSP00000501296.1:p.Asp2942Asn
ENST00000307340.7:c.8824G>A ENSP00000305941.3:p.Asp2942Asn
NM_206933.2:c.8824G>A NP_996816.2:p.Asp2942Asn
NM_206933.3:c.8824G>A NP_996816.2:p.Asp2942Asn
NM_206933.4:c.8824G>A MANE Select NP_996816.3:p.Asp2942Asn
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