Canonical Allele Identifier: CA143513
Gene: USH2A HGNC NCBI
USH2A-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 48530
ClinVar RCV Id: RCV000041856 RCV000787734 RCV001343509 RCV001831704 RCV003445122
dbSNP Id: rs397518019
gnomAD v4: 1-216084694-T-C
MyVariant Identifiers: chr1:g.216258036T>C (hg19) chr1:g.216084694T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216084694T>C , CM000663.2:g.216084694T>C GRCh38
NC_000001.10:g.216258036T>C , CM000663.1:g.216258036T>C GRCh37
NC_000001.9:g.214324659T>C NCBI36
NG_009497.1:g.343703A>G
NG_009497.2:g.343755A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5167+4A>G (USH2A) MANE Select ENSP00000305941.3:n.5167+4A>G
ENST00000674083.1:c.5167+4A>G (USH2A) ENSP00000501296.1:n.5167+4A>G
ENST00000307340.7:c.5167+4A>G (USH2A) ENSP00000305941.3:n.5167+4A>G
ENST00000463147.1:n.411+4A>G (USH2A)
ENST00000481786.1:n.409+4A>G (USH2A)
NM_206933.2:c.5167+4A>G (USH2A) NP_996816.2:n.5167+4A>G
NR_125992.1:n.266-2028T>C (USH2A-AS2)
NR_125993.1:n.137-2028T>C (USH2A-AS2)
NM_206933.3:c.5167+4A>G (USH2A) NP_996816.2:n.5167+4A>G
NM_206933.4:c.5167+4A>G (USH2A) MANE Select NP_996816.3:n.5167+4A>G
Search 100 bp 5'
Search 100 bp 3'