Canonical Allele Identifier: CA10588918
Gene: USH2A HGNC NCBI
USH2A-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 265979
ClinVar RCV Id: RCV000256390 RCV000678635 RCV001075572 RCV001171534 RCV001240204
dbSNP Id: rs886039867
gnomAD v3: 1-216078145-A-T
gnomAD v4: 1-216078145-A-T
MyVariant Identifiers: chr1:g.216251487A>T (hg19) chr1:g.216078145A>T (hg38)
ERepo: CA10588918/MONDO:0019501/005
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216078145A>T , CM000663.2:g.216078145A>T GRCh38
NC_000001.10:g.216251487A>T , CM000663.1:g.216251487A>T GRCh37
NC_000001.9:g.214318110A>T NCBI36
NG_009497.1:g.350252T>A
NG_009497.2:g.350304T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5516T>A (USH2A) MANE Select ENSP00000305941.3:p.Val1839Glu
ENST00000674083.1:c.5516T>A (USH2A) ENSP00000501296.1:p.Val1839Glu
ENST00000307340.7:c.5516T>A (USH2A) ENSP00000305941.3:p.Val1839Glu
NM_206933.2:c.5516T>A (USH2A) NP_996816.2:p.Val1839Glu
NR_125992.1:n.137-928A>T (USH2A-AS2)
NR_125993.1:n.136+5545A>T (USH2A-AS2)
NM_206933.3:c.5516T>A (USH2A) NP_996816.2:p.Val1839Glu
NM_206933.4:c.5516T>A (USH2A) MANE Select NP_996816.3:p.Val1839Glu
Search 100 bp 5'
Search 100 bp 3'