Canonical Allele Identifier: CA1393910
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 941952
ClinVar RCV Id: RCV001211833 RCV001833857 RCV002561765 RCV003449667
dbSNP Id: rs763125604
ExAC: 1:215953290 C / T
gnomAD v2: 1-215953290-C-T
gnomAD v3: 1-215779948-C-T
gnomAD v4: 1-215779948-C-T
MyVariant Identifiers: chr1:g.215953290C>T (hg19) chr1:g.215779948C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779948C>T , CM000663.2:g.215779948C>T GRCh38
NC_000001.10:g.215953290C>T , CM000663.1:g.215953290C>T GRCh37
NC_000001.9:g.214019913C>T NCBI36
NG_009497.1:g.648449G>A
NG_009497.2:g.648501G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10834G>A MANE Select ENSP00000305941.3:p.Val3612Ile
ENST00000674083.1:c.10834G>A ENSP00000501296.1:p.Val3612Ile
ENST00000307340.7:c.10834G>A ENSP00000305941.3:p.Val3612Ile
NM_206933.2:c.10834G>A NP_996816.2:p.Val3612Ile
NM_206933.3:c.10834G>A NP_996816.2:p.Val3612Ile
NM_206933.4:c.10834G>A MANE Select NP_996816.3:p.Val3612Ile
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