Canonical Allele Identifier: CA252235

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2357
• ClinVar RCV Id: RCV000002451 ; RCV000415089 ; RCV000414231 ; RCV000414867 ; RCV000412373 ; RCV000504922 ; RCV000824781 ; RCV001003260 ; RCV001074873 ; RCV001813732 ; RCV001806999 ; RCV002476913 ; RCV003114173 ; RCV003314546
• dbSNP Id: rs111033364
• ExAC: 1:215901574 C / T
• gnomAD v2: 1-215901574-C-T
• gnomAD v3: 1-215728232-C-T
• gnomAD v4: 1-215728232-C-T
• MyVariant Identifiers: chr1:g.215901574C>T (hg19) ; chr1:g.215728232C>T (hg38)
• PubMed: PMID:15015129 ; PMID:16963483 ; PMID:18273898 ; PMID:18463160 ; PMID:19683999 ; PMID:23891399 ; PMID:27460420 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215728232C>T , CM000663.2:g.215728232C>T	GRCh38
NC_000001.10:g.215901574C>T , CM000663.1:g.215901574C>T	GRCh37
NC_000001.9:g.213968197C>T	NCBI36
NG_009497.1:g.700165G>A
NG_009497.2:g.700217G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11864G>A MANE Select	ENSP00000305941.3:p.Trp3955Ter
ENST00000674083.1:c.11864G>A	ENSP00000501296.1:p.Trp3955Ter
ENST00000307340.7:c.11864G>A	ENSP00000305941.3:p.Trp3955Ter
NM_206933.2:c.11864G>A	NP_996816.2:p.Trp3955Ter
NM_206933.3:c.11864G>A	NP_996816.2:p.Trp3955Ter
NM_206933.4:c.11864G>A MANE Select	NP_996816.3:p.Trp3955Ter