Canonical Allele Identifier: CA658822729

Gene: USH2A

Linked Data

• ClinVar Variation Id: 550881
• ClinVar RCV Id: RCV000665759
• dbSNP Id: rs1553297684
• MyVariant Identifiers: chr1:g.216070266_216070267del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070266_216070267del , CM000663.2:g.216070266_216070267del	GRCh38
NC_000001.10:g.216243608_216243609del , CM000663.1:g.216243608_216243609del	GRCh37
NC_000001.9:g.214310231_214310232del	NCBI36
NG_009497.1:g.358130_358131del
NG_009497.2:g.358182_358183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5883_5884del MANE Select	ENSP00000305941.3:p.Arg1962SerfsTer10
ENST00000674083.1:c.5883_5884del	ENSP00000501296.1:p.Arg1962SerfsTer10
ENST00000307340.7:c.5883_5884del	ENSP00000305941.3:p.Arg1962SerfsTer10
NM_206933.2:c.5883_5884del	NP_996816.2:p.Arg1962SerfsTer10
NM_206933.3:c.5883_5884del	NP_996816.2:p.Arg1962SerfsTer10
NM_206933.4:c.5883_5884del MANE Select	NP_996816.3:p.Arg1962SerfsTer10