Canonical Allele Identifier: CA2747729345
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070309G>A , CM000663.2:g.216070309G>A GRCh38
NC_000001.10:g.216243651G>A , CM000663.1:g.216243651G>A GRCh37
NC_000001.9:g.214310274G>A NCBI36
NG_009497.1:g.358088C>T
NG_009497.2:g.358140C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.5858-17C>T MANE Select ENSP00000305941.3:n.5858-17C>T
ENST00000674083.1:c.5858-17C>T ENSP00000501296.1:n.5858-17C>T
ENST00000307340.7:c.5858-17C>T ENSP00000305941.3:n.5858-17C>T
NM_206933.2:c.5858-17C>T NP_996816.2:n.5858-17C>T
NM_206933.3:c.5858-17C>T NP_996816.2:n.5858-17C>T
NM_206933.4:c.5858-17C>T MANE Select NP_996816.3:n.5858-17C>T
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