Canonical Allele Identifier: CA1393482
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 866067
ClinVar RCV Id: RCV001073796 RCV002505663 RCV002554679 RCV003455332 RCV003455333
dbSNP Id: rs188008529
ExAC: 1:215848894 C / T
gnomAD v2: 1-215848894-C-T
gnomAD v3: 1-215675552-C-T
gnomAD v4: 1-215675552-C-T
COSMIC: COSM1320485
MyVariant Identifiers: chr1:g.215848894C>T (hg19) chr1:g.215675552C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675552C>T , CM000663.2:g.215675552C>T GRCh38
NC_000001.10:g.215848894C>T , CM000663.1:g.215848894C>T GRCh37
NC_000001.9:g.213915517C>T NCBI36
NG_009497.1:g.752845G>A
NG_009497.2:g.752897G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12359G>A MANE Select ENSP00000305941.3:p.Arg4120His
ENST00000674083.1:c.12359G>A ENSP00000501296.1:p.Arg4120His
ENST00000307340.7:c.12359G>A ENSP00000305941.3:p.Arg4120His
NM_206933.2:c.12359G>A NP_996816.2:p.Arg4120His
NM_206933.3:c.12359G>A NP_996816.2:p.Arg4120His
NM_206933.4:c.12359G>A MANE Select NP_996816.3:p.Arg4120His
Search 100 bp 5'
Search 100 bp 3'