Canonical Allele Identifier: CA1220425893
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798895T= , CM000663.2:g.215798895T= GRCh38
NC_000001.10:g.215972237T= , CM000663.1:g.215972237T= GRCh37
NC_000001.9:g.214038860T= NCBI36
NG_009497.1:g.629502A=
NG_009497.2:g.629554A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9958+12A= MANE Select ENSP00000305941.3:n.9958+12A=
ENST00000674083.1:c.9958+12A= ENSP00000501296.1:n.9958+12A=
ENST00000307340.7:c.9958+12A= ENSP00000305941.3:n.9958+12A=
NM_206933.2:c.9958+12A= NP_996816.2:n.9958+12A=
NM_206933.3:c.9958+12A= NP_996816.2:n.9958+12A=
NM_206933.4:c.9958+12A= MANE Select NP_996816.3:n.9958+12A=
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