Canonical Allele Identifier: CA16621589
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 424933
dbSNP Id: rs1064797133

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215766753_215766754dup , CM000663.2:g.215766753_215766754dup GRCh38
NC_000001.10:g.215940095_215940096dup , CM000663.1:g.215940095_215940096dup GRCh37
NC_000001.9:g.214006718_214006719dup NCBI36
NG_009497.1:g.661643_661644dup
NG_009497.2:g.661695_661696dup

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10974_10975dup MANE Select ENSP00000305941.3:p.Thr3659IlefsTer16
ENST00000674083.1:c.10974_10975dup ENSP00000501296.1:p.Thr3659IlefsTer16
ENST00000307340.7:c.10974_10975dup ENSP00000305941.3:p.Thr3659IlefsTer16
NM_206933.2:c.10974_10975dup NP_996816.2:p.Thr3659IlefsTer16
NM_206933.3:c.10974_10975dup NP_996816.2:p.Thr3659IlefsTer16
NM_206933.4:c.10974_10975dup MANE Select NP_996816.3:p.Thr3659IlefsTer16