Canonical Allele Identifier: CA2697554932
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2698850
ClinVar RCV Id: RCV003544340
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247245T>A , CM000663.2:g.216247245T>A GRCh38
NC_000001.10:g.216420587T>A , CM000663.1:g.216420587T>A GRCh37
NC_000001.9:g.214487210T>A NCBI36
NG_009497.1:g.181152A>T
NG_009497.2:g.181204A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2168-19A>T MANE Select ENSP00000305941.3:n.2168-19A>T
ENST00000674083.1:c.2168-19A>T ENSP00000501296.1:n.2168-19A>T
ENST00000307340.7:c.2168-19A>T ENSP00000305941.3:n.2168-19A>T
ENST00000366942.3:c.2168-19A>T ENSP00000355909.3:n.2168-19A>T
NM_007123.5:c.2168-19A>T NP_009054.5:n.2168-19A>T
NM_206933.2:c.2168-19A>T NP_996816.2:n.2168-19A>T
NM_206933.3:c.2168-19A>T NP_996816.2:n.2168-19A>T
NM_007123.6:c.2168-19A>T NP_009054.6:n.2168-19A>T
NM_206933.4:c.2168-19A>T MANE Select NP_996816.3:n.2168-19A>T
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