Canonical Allele Identifier: CA2530522360

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247021_216247022insCC , CM000663.2:g.216247021_216247022insCC	GRCh38
NC_000001.10:g.216420363_216420364insCC , CM000663.1:g.216420363_216420364insCC	GRCh37
NC_000001.9:g.214486986_214486987insCC	NCBI36
NG_009497.1:g.181375_181376insGG
NG_009497.2:g.181427_181428insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2372_2373insGG MANE Select	ENSP00000305941.3:p.Asn791LysfsTer?
ENST00000674083.1:c.2372_2373insGG	ENSP00000501296.1:p.Asn791LysfsTer?
ENST00000307340.7:c.2372_2373insGG	ENSP00000305941.3:p.Asn791LysfsTer?
ENST00000366942.3:c.2372_2373insGG	ENSP00000355909.3:p.Asn791LysfsTer?
NM_007123.5:c.2372_2373insGG	NP_009054.5:p.Asn791LysfsTer?
NM_206933.2:c.2372_2373insGG	NP_996816.2:p.Asn791LysfsTer?
NM_206933.3:c.2372_2373insGG	NP_996816.2:p.Asn791LysfsTer?
NM_007123.6:c.2372_2373insGG	NP_009054.6:p.Asn791LysfsTer?
NM_206933.4:c.2372_2373insGG MANE Select	NP_996816.3:p.Asn791LysfsTer?