Canonical Allele Identifier: CA2650512848

Gene: USH2A

Linked Data

• gnomAD v4: 1-216246696-ACATCTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216246699_216246705del , CM000663.2:g.216246699_216246705del	GRCh38
NC_000001.10:g.216420041_216420047del , CM000663.1:g.216420041_216420047del	GRCh37
NC_000001.9:g.214486664_214486670del	NCBI36
NG_009497.1:g.181694_181700del
NG_009497.2:g.181746_181752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2691_2697del MANE Select	ENSP00000305941.3:p.Gln898ValfsTer?
ENST00000674083.1:c.2691_2697del	ENSP00000501296.1:p.Gln898ValfsTer?
ENST00000307340.7:c.2691_2697del	ENSP00000305941.3:p.Gln898ValfsTer?
ENST00000366942.3:c.2691_2697del	ENSP00000355909.3:p.Gln898ValfsTer?
NM_007123.5:c.2691_2697del	NP_009054.5:p.Gln898ValfsTer?
NM_206933.2:c.2691_2697del	NP_996816.2:p.Gln898ValfsTer?
NM_206933.3:c.2691_2697del	NP_996816.2:p.Gln898ValfsTer?
NM_007123.6:c.2691_2697del	NP_009054.6:p.Gln898ValfsTer?
NM_206933.4:c.2691_2697del MANE Select	NP_996816.3:p.Gln898ValfsTer?