Canonical Allele Identifier: CA1393972
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2202152
ClinVar RCV Id: RCV002629905 RCV003455741 RCV003455742
dbSNP Id: rs751148618
ExAC: 1:215955529 A / G
gnomAD v2: 1-215955529-A-G
gnomAD v3: 1-215782187-A-G
gnomAD v4: 1-215782187-A-G
MyVariant Identifiers: chr1:g.215955529A>G (hg19) chr1:g.215782187A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782187A>G , CM000663.2:g.215782187A>G GRCh38
NC_000001.10:g.215955529A>G , CM000663.1:g.215955529A>G GRCh37
NC_000001.9:g.214022152A>G NCBI36
NG_009497.1:g.646210T>C
NG_009497.2:g.646262T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10595T>C MANE Select ENSP00000305941.3:p.Ile3532Thr
ENST00000674083.1:c.10595T>C ENSP00000501296.1:p.Ile3532Thr
ENST00000307340.7:c.10595T>C ENSP00000305941.3:p.Ile3532Thr
NM_206933.2:c.10595T>C NP_996816.2:p.Ile3532Thr
NM_206933.3:c.10595T>C NP_996816.2:p.Ile3532Thr
NM_206933.4:c.10595T>C MANE Select NP_996816.3:p.Ile3532Thr
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