Canonical Allele Identifier: CA1393462
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1040713
ClinVar RCV Id: RCV001344401 RCV001825903
dbSNP Id: rs145531316
ExAC: 1:215848796 C / T
gnomAD v2: 1-215848796-C-T
gnomAD v3: 1-215675454-C-T
gnomAD v4: 1-215675454-C-T
MyVariant Identifiers: chr1:g.215848796C>T (hg19) chr1:g.215848796_215848797delinsTT (hg19) chr1:g.215675454C>T (hg38) chr1:g.215675454_215675455delinsTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675454C>T , CM000663.2:g.215675454C>T GRCh38
NC_000001.10:g.215848796C>T , CM000663.1:g.215848796C>T GRCh37
NC_000001.9:g.213915419C>T NCBI36
NG_009497.1:g.752943G>A
NG_009497.2:g.752995G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12457G>A MANE Select ENSP00000305941.3:p.Ala4153Thr
ENST00000674083.1:c.12457G>A ENSP00000501296.1:p.Ala4153Thr
ENST00000307340.7:c.12457G>A ENSP00000305941.3:p.Ala4153Thr
NM_206933.2:c.12457G>A NP_996816.2:p.Ala4153Thr
NM_206933.3:c.12457G>A NP_996816.2:p.Ala4153Thr
NM_206933.4:c.12457G>A MANE Select NP_996816.3:p.Ala4153Thr
Search 100 bp 5'
Search 100 bp 3'