Canonical Allele Identifier: CA1220619284

Gene: USH2A

Linked Data

• dbSNP Id: rs2036068509

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247180_216247197dup , CM000663.2:g.216247180_216247197dup	GRCh38
NC_000001.10:g.216420522_216420539dup , CM000663.1:g.216420522_216420539dup	GRCh37
NC_000001.9:g.214487145_214487162dup	NCBI36
NG_009497.1:g.181205_181222dup
NG_009497.2:g.181257_181274dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2202_2219dup MANE Select	ENSP00000305941.3:p.Phe739_Asn740insLysPheLeuArgSerPhe
ENST00000674083.1:c.2202_2219dup	ENSP00000501296.1:p.Phe739_Asn740insLysPheLeuArgSerPhe
ENST00000307340.7:c.2202_2219dup	ENSP00000305941.3:p.Phe739_Asn740insLysPheLeuArgSerPhe
ENST00000366942.3:c.2202_2219dup	ENSP00000355909.3:p.Phe739_Asn740insLysPheLeuArgSerPhe
NM_007123.5:c.2202_2219dup	NP_009054.5:p.Phe739_Asn740insLysPheLeuArgSerPhe
NM_206933.2:c.2202_2219dup	NP_996816.2:p.Phe739_Asn740insLysPheLeuArgSerPhe
NM_206933.3:c.2202_2219dup	NP_996816.2:p.Phe739_Asn740insLysPheLeuArgSerPhe
NM_007123.6:c.2202_2219dup	NP_009054.6:p.Phe739_Asn740insLysPheLeuArgSerPhe
NM_206933.4:c.2202_2219dup MANE Select	NP_996816.3:p.Phe739_Asn740insLysPheLeuArgSerPhe