Canonical Allele Identifier: CA344865302

Gene: USH2A

Linked Data

• dbSNP Id: rs2036067231
• MyVariant Identifiers: chr1:g.216420463A>T (hg19) ; chr1:g.216247121A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247121A>T , CM000663.2:g.216247121A>T	GRCh38
NC_000001.10:g.216420463A>T , CM000663.1:g.216420463A>T	GRCh37
NC_000001.9:g.214487086A>T	NCBI36
NG_009497.1:g.181276T>A
NG_009497.2:g.181328T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2273T>A MANE Select	ENSP00000305941.3:p.Phe758Tyr
ENST00000674083.1:c.2273T>A	ENSP00000501296.1:p.Phe758Tyr
ENST00000307340.7:c.2273T>A	ENSP00000305941.3:p.Phe758Tyr
ENST00000366942.3:c.2273T>A	ENSP00000355909.3:p.Phe758Tyr
NM_007123.5:c.2273T>A	NP_009054.5:p.Phe758Tyr
NM_206933.2:c.2273T>A	NP_996816.2:p.Phe758Tyr
NM_206933.3:c.2273T>A	NP_996816.2:p.Phe758Tyr
NM_007123.6:c.2273T>A	NP_009054.6:p.Phe758Tyr
NM_206933.4:c.2273T>A MANE Select	NP_996816.3:p.Phe758Tyr