Canonical Allele Identifier: CA1396276
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1950748
ClinVar RCV Id: RCV002681461
dbSNP Id: rs773686399
ExAC: 1:216420583 T / A
gnomAD v2: 1-216420583-T-A
gnomAD v4: 1-216247241-T-A
MyVariant Identifiers: chr1:g.216420583T>A (hg19) chr1:g.216420583_216420584delinsAA (hg19) chr1:g.216247241T>A (hg38) chr1:g.216247241_216247242delinsAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247241T>A , CM000663.2:g.216247241T>A GRCh38
NC_000001.10:g.216420583T>A , CM000663.1:g.216420583T>A GRCh37
NC_000001.9:g.214487206T>A NCBI36
NG_009497.1:g.181156A>T
NG_009497.2:g.181208A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2168-15A>T MANE Select ENSP00000305941.3:n.2168-15A>T
ENST00000674083.1:c.2168-15A>T ENSP00000501296.1:n.2168-15A>T
ENST00000307340.7:c.2168-15A>T ENSP00000305941.3:n.2168-15A>T
ENST00000366942.3:c.2168-15A>T ENSP00000355909.3:n.2168-15A>T
NM_007123.5:c.2168-15A>T NP_009054.5:n.2168-15A>T
NM_206933.2:c.2168-15A>T NP_996816.2:n.2168-15A>T
NM_206933.3:c.2168-15A>T NP_996816.2:n.2168-15A>T
NM_007123.6:c.2168-15A>T NP_009054.6:n.2168-15A>T
NM_206933.4:c.2168-15A>T MANE Select NP_996816.3:n.2168-15A>T
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