Canonical Allele Identifier: CA1220588062

Gene: USH2A

Linked Data

• dbSNP Id: rs2034355182

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216175323_216175326dup , CM000663.2:g.216175323_216175326dup	GRCh38
NC_000001.10:g.216348665_216348668dup , CM000663.1:g.216348665_216348668dup	GRCh37
NC_000001.9:g.214415288_214415291dup	NCBI36
NG_009497.1:g.253073_253076dup
NG_009497.2:g.253125_253128dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4555_4558dup MANE Select	ENSP00000305941.3:p.Ile1520ArgfsTer11
ENST00000674083.1:c.4555_4558dup	ENSP00000501296.1:p.Ile1520ArgfsTer11
ENST00000307340.7:c.4555_4558dup	ENSP00000305941.3:p.Ile1520ArgfsTer11
ENST00000366942.3:c.4555_4558dup	ENSP00000355909.3:p.Ile1520ArgfsTer11
NM_007123.5:c.4555_4558dup	NP_009054.5:p.Ile1520ArgfsTer11
NM_206933.2:c.4555_4558dup	NP_996816.2:p.Ile1520ArgfsTer11
NM_206933.3:c.4555_4558dup	NP_996816.2:p.Ile1520ArgfsTer11
NM_007123.6:c.4555_4558dup	NP_009054.6:p.Ile1520ArgfsTer11
NM_206933.4:c.4555_4558dup MANE Select	NP_996816.3:p.Ile1520ArgfsTer11