Canonical Allele Identifier: CA1147679517
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640859A= , CM000663.2:g.215640859A= GRCh38
NC_000001.10:g.215814201A= , CM000663.1:g.215814201A= GRCh37
NC_000001.9:g.213880824A= NCBI36
NG_009497.1:g.787538T=
NG_009497.2:g.787590T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-125T= MANE Select ENSP00000305941.3:n.14792-125T=
ENST00000674083.1:c.14792-125T= ENSP00000501296.1:n.14792-125T=
ENST00000307340.7:c.14792-125T= ENSP00000305941.3:n.14792-125T=
NM_206933.2:c.14792-125T= NP_996816.2:n.14792-125T=
NM_206933.3:c.14792-125T= NP_996816.2:n.14792-125T=
NM_206933.4:c.14792-125T= MANE Select NP_996816.3:n.14792-125T=
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