Canonical Allele Identifier: CA731430810

Gene: USH2A

Linked Data

• dbSNP Id: rs1227261364
• gnomAD v3: 1-216246466-CAGT-C
• gnomAD v4: 1-216246466-CAGT-C
• MyVariant Identifiers: chr1:g.216419809_216419811del (hg19) ; chr1:g.216246467_216246469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216246468_216246470del , CM000663.2:g.216246468_216246470del	GRCh38
NC_000001.10:g.216419810_216419812del , CM000663.1:g.216419810_216419812del	GRCh37
NC_000001.9:g.214486433_214486435del	NCBI36
NG_009497.1:g.181928_181930del
NG_009497.2:g.181980_181982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2809+116_2809+118del MANE Select	ENSP00000305941.3:n.2809+116_2809+118del
ENST00000674083.1:c.2809+116_2809+118del	ENSP00000501296.1:n.2809+116_2809+118del
ENST00000307340.7:c.2809+116_2809+118del	ENSP00000305941.3:n.2809+116_2809+118del
ENST00000366942.3:c.2809+116_2809+118del	ENSP00000355909.3:n.2809+116_2809+118del
NM_007123.5:c.2809+116_2809+118del	NP_009054.5:n.2809+116_2809+118del
NM_206933.2:c.2809+116_2809+118del	NP_996816.2:n.2809+116_2809+118del
NM_206933.3:c.2809+116_2809+118del	NP_996816.2:n.2809+116_2809+118del
NM_007123.6:c.2809+116_2809+118del	NP_009054.6:n.2809+116_2809+118del
NM_206933.4:c.2809+116_2809+118del MANE Select	NP_996816.3:n.2809+116_2809+118del