Canonical Allele Identifier: CA275365

Gene: USH2A

Linked Data

• ClinVar Variation Id: 198318
• ClinVar RCV Id: RCV000179599 ; RCV000505154 ; RCV000671027 ; RCV001073824 ; RCV001376411 ; RCV001826918
• dbSNP Id: rs779791079
• ExAC: 1:215901561 TTG / T
• gnomAD v2: 1-215901561-TTG-T
• gnomAD v3: 1-215728219-TTG-T
• gnomAD v4: 1-215728219-TTG-T
• MyVariant Identifiers: chr1:g.215901562_215901563del (hg19) ; chr1:g.215728220_215728221del (hg38)
• PubMed: PMID:18273898 ; PMID:23891399 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215728223_215728224del , CM000663.2:g.215728223_215728224del	GRCh38
NC_000001.10:g.215901565_215901566del , CM000663.1:g.215901565_215901566del	GRCh37
NC_000001.9:g.213968188_213968189del	NCBI36
NG_009497.1:g.700176_700177del
NG_009497.2:g.700228_700229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11875_11876del MANE Select	ENSP00000305941.3:p.Gln3959AsnfsTer?
ENST00000674083.1:c.11875_11876del	ENSP00000501296.1:p.Gln3959AsnfsTer?
ENST00000307340.7:c.11875_11876del	ENSP00000305941.3:p.Gln3959AsnfsTer?
NM_206933.2:c.11875_11876del	NP_996816.2:p.Gln3959AsnfsTer?
NM_206933.3:c.11875_11876del	NP_996816.2:p.Gln3959AsnfsTer?
NM_206933.4:c.11875_11876del MANE Select	NP_996816.3:p.Gln3959AsnfsTer?