Canonical Allele Identifier: CA2747733542

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216175303dup , CM000663.2:g.216175303dup	GRCh38
NC_000001.10:g.216348645dup , CM000663.1:g.216348645dup	GRCh37
NC_000001.9:g.214415268dup	NCBI36
NG_009497.1:g.253096dup
NG_009497.2:g.253148dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4578dup MANE Select	ENSP00000305941.3:p.Tyr1527ValfsTer3
ENST00000674083.1:c.4578dup	ENSP00000501296.1:p.Tyr1527ValfsTer3
ENST00000307340.7:c.4578dup	ENSP00000305941.3:p.Tyr1527ValfsTer3
ENST00000366942.3:c.4578dup	ENSP00000355909.3:p.Tyr1527ValfsTer3
NM_007123.5:c.4578dup	NP_009054.5:p.Tyr1527ValfsTer3
NM_206933.2:c.4578dup	NP_996816.2:p.Tyr1527ValfsTer3
NM_206933.3:c.4578dup	NP_996816.2:p.Tyr1527ValfsTer3
NM_007123.6:c.4578dup	NP_009054.6:p.Tyr1527ValfsTer3
NM_206933.4:c.4578dup MANE Select	NP_996816.3:p.Tyr1527ValfsTer3