Canonical Allele Identifier: CA1220542845
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070319G= , CM000663.2:g.216070319G= GRCh38
NC_000001.10:g.216243661G= , CM000663.1:g.216243661G= GRCh37
NC_000001.9:g.214310284G= NCBI36
NG_009497.1:g.358078C=
NG_009497.2:g.358130C=

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.5858-27C= MANE Select ENSP00000305941.3:n.5858-27C=
ENST00000674083.1:c.5858-27C= ENSP00000501296.1:n.5858-27C=
ENST00000307340.7:c.5858-27C= ENSP00000305941.3:n.5858-27C=
NM_206933.2:c.5858-27C= NP_996816.2:n.5858-27C=
NM_206933.3:c.5858-27C= NP_996816.2:n.5858-27C=
NM_206933.4:c.5858-27C= MANE Select NP_996816.3:n.5858-27C=
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