Canonical Allele Identifier: CA16609675
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 418537
dbSNP Id: rs1064793289

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215680290_215680291insAA , CM000663.2:g.215680290_215680291insAA GRCh38
NC_000001.10:g.215853632_215853633insAA , CM000663.1:g.215853632_215853633insAA GRCh37
NC_000001.9:g.213920255_213920256insAA NCBI36
NG_009497.1:g.748106_748107insTT
NG_009497.2:g.748158_748159insTT

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.12152_12153insTT MANE Select ENSP00000305941.3:p.Glu4051AspfsTer2
ENST00000674083.1:c.12152_12153insTT ENSP00000501296.1:p.Glu4051AspfsTer2
ENST00000307340.7:c.12152_12153insTT ENSP00000305941.3:p.Glu4051AspfsTer2
NM_206933.2:c.12152_12153insTT NP_996816.2:p.Glu4051AspfsTer2
NM_206933.3:c.12152_12153insTT NP_996816.2:p.Glu4051AspfsTer2
NM_206933.4:c.12152_12153insTT MANE Select NP_996816.3:p.Glu4051AspfsTer2