Canonical Allele Identifier: CA731431711

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2734095
• ClinVar RCV Id: RCV003554902
• dbSNP Id: rs1206374036
• MyVariant Identifiers: chr1:g.216420297del (hg19) ; chr1:g.216246955del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216246957del , CM000663.2:g.216246957del	GRCh38
NC_000001.10:g.216420299del , CM000663.1:g.216420299del	GRCh37
NC_000001.9:g.214486922del	NCBI36
NG_009497.1:g.181442del
NG_009497.2:g.181494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2439del MANE Select	ENSP00000305941.3:p.Gln814SerfsTer?
ENST00000674083.1:c.2439del	ENSP00000501296.1:p.Gln814SerfsTer?
ENST00000307340.7:c.2439del	ENSP00000305941.3:p.Gln814SerfsTer?
ENST00000366942.3:c.2439del	ENSP00000355909.3:p.Gln814SerfsTer?
NM_007123.5:c.2439del	NP_009054.5:p.Gln814SerfsTer?
NM_206933.2:c.2439del	NP_996816.2:p.Gln814SerfsTer?
NM_206933.3:c.2439del	NP_996816.2:p.Gln814SerfsTer?
NM_007123.6:c.2439del	NP_009054.6:p.Gln814SerfsTer?
NM_206933.4:c.2439del MANE Select	NP_996816.3:p.Gln814SerfsTer?