Canonical Allele Identifier: CA646412341

Gene: USH2A

Linked Data

• COSMIC: COSN20080517

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779822_215779823insT , CM000663.2:g.215779822_215779823insT	GRCh38
NC_000001.10:g.215953164_215953165insT , CM000663.1:g.215953164_215953165insT	GRCh37
NC_000001.9:g.214019787_214019788insT	NCBI36
NG_009497.1:g.648574_648575insA
NG_009497.2:g.648626_648627insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10939+20_10939+21insA MANE Select	ENSP00000305941.3:n.10939+20_10939+21insA
ENST00000674083.1:c.10939+20_10939+21insA	ENSP00000501296.1:n.10939+20_10939+21insA
ENST00000307340.7:c.10939+20_10939+21insA	ENSP00000305941.3:n.10939+20_10939+21insA
NM_206933.2:c.10939+20_10939+21insA	NP_996816.2:n.10939+20_10939+21insA
NM_206933.3:c.10939+20_10939+21insA	NP_996816.2:n.10939+20_10939+21insA
NM_206933.4:c.10939+20_10939+21insA MANE Select	NP_996816.3:n.10939+20_10939+21insA