Canonical Allele Identifier: CA1220372225
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671297C= , CM000663.2:g.215671297C= GRCh38
NC_000001.10:g.215844639C= , CM000663.1:g.215844639C= GRCh37
NC_000001.9:g.213911262C= NCBI36
NG_009497.1:g.757100G=
NG_009497.2:g.757152G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13812-4G= MANE Select ENSP00000305941.3:n.13812-4G=
ENST00000674083.1:c.13812-4G= ENSP00000501296.1:n.13812-4G=
ENST00000307340.7:c.13812-4G= ENSP00000305941.3:n.13812-4G=
NM_206933.2:c.13812-4G= NP_996816.2:n.13812-4G=
NM_206933.3:c.13812-4G= NP_996816.2:n.13812-4G=
NM_206933.4:c.13812-4G= MANE Select NP_996816.3:n.13812-4G=
Search 100 bp 5'
Search 100 bp 3'