Canonical Allele Identifier: CA1144012607
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816976G= , CM000663.2:g.215816976G= GRCh38
NC_000001.10:g.215990318G= , CM000663.1:g.215990318G= GRCh37
NC_000001.9:g.214056941G= NCBI36
NG_009497.1:g.611421C=
NG_009497.2:g.611473C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9570+21C= MANE Select ENSP00000305941.3:n.9570+21C=
ENST00000674083.1:c.9570+21C= ENSP00000501296.1:n.9570+21C=
ENST00000307340.7:c.9570+21C= ENSP00000305941.3:n.9570+21C=
NM_206933.2:c.9570+21C= NP_996816.2:n.9570+21C=
NM_206933.3:c.9570+21C= NP_996816.2:n.9570+21C=
NM_206933.4:c.9570+21C= MANE Select NP_996816.3:n.9570+21C=
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