Canonical Allele Identifier: CA645519368
Gene: USH2A HGNC NCBI

Linked Data

COSMIC: COSM4612005 COSM4612006
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671248dup , CM000663.2:g.215671248dup GRCh38
NC_000001.10:g.215844590dup , CM000663.1:g.215844590dup GRCh37
NC_000001.9:g.213911213dup NCBI36
NG_009497.1:g.757150dup
NG_009497.2:g.757202dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13858dup MANE Select ENSP00000305941.3:p.Ser4620LysfsTer2
ENST00000674083.1:c.13858dup ENSP00000501296.1:p.Ser4620LysfsTer2
ENST00000307340.7:c.13858dup ENSP00000305941.3:p.Ser4620LysfsTer2
NM_206933.2:c.13858dup NP_996816.2:p.Ser4620LysfsTer2
NM_206933.3:c.13858dup NP_996816.2:p.Ser4620LysfsTer2
NM_206933.4:c.13858dup MANE Select NP_996816.3:p.Ser4620LysfsTer2
Search 100 bp 5'
Search 100 bp 3'