Canonical Allele Identifier: CA423306864
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215813967G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640625G>T , CM000663.2:g.215640625G>T GRCh38
NC_000001.10:g.215813967G>T , CM000663.1:g.215813967G>T GRCh37
NC_000001.9:g.213880590G>T NCBI36
NG_009497.1:g.787772C>A
NG_009497.2:g.787824C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.14901C>A MANE Select ENSP00000305941.3:p.Thr4967=
ENST00000674083.1:c.14901C>A ENSP00000501296.1:p.Thr4967=
ENST00000307340.7:c.14901C>A ENSP00000305941.3:p.Thr4967=
NM_206933.2:c.14901C>A NP_996816.2:p.Thr4967=
NM_206933.3:c.14901C>A NP_996816.2:p.Thr4967=
NM_206933.4:c.14901C>A MANE Select NP_996816.3:p.Thr4967=
Search 100 bp 5'
Search 100 bp 3'