Canonical Allele Identifier: CA275315

Gene: USH2A

Linked Data

• ClinVar Variation Id: 197932
• ClinVar RCV Id: RCV000179099 ; RCV000190637 ; RCV000482080 ; RCV000505000 ; RCV000515419 ; RCV001073681 ; RCV001174974 ; RCV004537478
• dbSNP Id: rs148660051
• ExAC: 1:215963510 C / T
• gnomAD v2: 1-215963510-C-T
• gnomAD v3: 1-215790168-C-T
• gnomAD v4: 1-215790168-C-T
• MyVariant Identifiers: chr1:g.215963510C>T (hg19) ; chr1:g.215790168C>T (hg38)
• PubMed: PMID:20507924 ; PMID:21151602 ; PMID:22004887 ; PMID:22135276 ; PMID:22334370 ; PMID:23891399 ; PMID:25097241 ; PMID:25472526 ; PMID:25649381 ; PMID:25999674 ; PMID:26667666 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215790168C>T , CM000663.2:g.215790168C>T	GRCh38
NC_000001.10:g.215963510C>T , CM000663.1:g.215963510C>T	GRCh37
NC_000001.9:g.214030133C>T	NCBI36
NG_009497.1:g.638229G>A
NG_009497.2:g.638281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10073G>A MANE Select	ENSP00000305941.3:p.Cys3358Tyr
ENST00000674083.1:c.10073G>A	ENSP00000501296.1:p.Cys3358Tyr
ENST00000307340.7:c.10073G>A	ENSP00000305941.3:p.Cys3358Tyr
NM_206933.2:c.10073G>A	NP_996816.2:p.Cys3358Tyr
NM_206933.3:c.10073G>A	NP_996816.2:p.Cys3358Tyr
NM_206933.4:c.10073G>A MANE Select	NP_996816.3:p.Cys3358Tyr