Canonical Allele Identifier: CA2650513330
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-216418694-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216418694G>T , CM000663.2:g.216418694G>T GRCh38
NC_000001.10:g.216592036G>T , CM000663.1:g.216592036G>T GRCh37
NC_000001.9:g.214658659G>T NCBI36
NG_009497.1:g.9703C>A
NG_009497.2:g.9755C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.486-15C>A MANE Select ENSP00000305941.3:n.486-15C>A
ENST00000674083.1:c.486-15C>A ENSP00000501296.1:n.486-15C>A
ENST00000307340.7:c.486-15C>A ENSP00000305941.3:n.486-15C>A
ENST00000366942.3:c.486-15C>A ENSP00000355909.3:n.486-15C>A
NM_007123.5:c.486-15C>A NP_009054.5:n.486-15C>A
NM_206933.2:c.486-15C>A NP_996816.2:n.486-15C>A
NM_206933.3:c.486-15C>A NP_996816.2:n.486-15C>A
NM_007123.6:c.486-15C>A NP_009054.6:n.486-15C>A
NM_206933.4:c.486-15C>A MANE Select NP_996816.3:n.486-15C>A
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