Canonical Allele Identifier: CA143277

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48386
• ClinVar RCV Id: RCV000041708 ; RCV000119822 ; RCV000955280 ; RCV003887885
• dbSNP Id: rs55961436
• ExAC: 1:215901510 C / T
• gnomAD v2: 1-215901510-C-T
• gnomAD v3: 1-215728168-C-T
• gnomAD v4: 1-215728168-C-T
• MyVariant Identifiers: chr1:g.215901510C>T (hg19) ; chr1:g.215728168C>T (hg38)
• PubMed: PMID:23891399 ; PMID:25991456

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215728168C>T , CM000663.2:g.215728168C>T	GRCh38
NC_000001.10:g.215901510C>T , CM000663.1:g.215901510C>T	GRCh37
NC_000001.9:g.213968133C>T	NCBI36
NG_009497.1:g.700229G>A
NG_009497.2:g.700281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11928G>A MANE Select	ENSP00000305941.3:p.Thr3976=
ENST00000674083.1:c.11928G>A	ENSP00000501296.1:p.Thr3976=
ENST00000307340.7:c.11928G>A	ENSP00000305941.3:p.Thr3976=
NM_206933.2:c.11928G>A	NP_996816.2:p.Thr3976=
NM_206933.3:c.11928G>A	NP_996816.2:p.Thr3976=
NM_206933.4:c.11928G>A MANE Select	NP_996816.3:p.Thr3976=