Canonical Allele Identifier: CA658683171

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 488648
• ClinVar RCV Id: RCV000578433 ; RCV001853837
• dbSNP Id: rs1553299022
• gnomAD v3: 1-216078106-TGTTGATAAGA-T
• gnomAD v4: 1-216078106-TGTTGATAAGA-T
• MyVariant Identifiers: chr1:g.216251449_216251458del (hg19) ; chr1:g.216078107_216078116del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216078110_216078119del , CM000663.2:g.216078110_216078119del	GRCh38
NC_000001.10:g.216251452_216251461del , CM000663.1:g.216251452_216251461del	GRCh37
NC_000001.9:g.214318075_214318084del	NCBI36
NG_009497.1:g.350281_350290del
NG_009497.2:g.350333_350342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5545_5554del (USH2A) MANE Select	ENSP00000305941.3:p.Ser1849IlefsTer12
ENST00000674083.1:c.5545_5554del (USH2A)	ENSP00000501296.1:p.Ser1849IlefsTer12
ENST00000307340.7:c.5545_5554del (USH2A)	ENSP00000305941.3:p.Ser1849IlefsTer12
NM_206933.2:c.5545_5554del (USH2A)	NP_996816.2:p.Ser1849IlefsTer12
NR_125992.1:n.137-963_137-954del (USH2A-AS2)
NR_125993.1:n.136+5510_136+5519del (USH2A-AS2)
NM_206933.3:c.5545_5554del (USH2A)	NP_996816.2:p.Ser1849IlefsTer12
NM_206933.4:c.5545_5554del (USH2A) MANE Select	NP_996816.3:p.Ser1849IlefsTer12