Canonical Allele Identifier: CA262062

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48356
• ClinVar RCV Id: RCV000041677 ; RCV001073926 ; RCV001852854 ; RCV003450737 ; RCV002496659 ; RCV003450738
• dbSNP Id: rs111033265
• ExAC: 1:215955400 C / T
• gnomAD v2: 1-215955400-C-T
• gnomAD v4: 1-215782058-C-T
• MyVariant Identifiers: chr1:g.215955400C>T (hg19) ; chr1:g.215782058C>T (hg38)
• PubMed: PMID:22135276

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782058C>T , CM000663.2:g.215782058C>T	GRCh38
NC_000001.10:g.215955400C>T , CM000663.1:g.215955400C>T	GRCh37
NC_000001.9:g.214022023C>T	NCBI36
NG_009497.1:g.646339G>A
NG_009497.2:g.646391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10724G>A MANE Select	ENSP00000305941.3:p.Cys3575Tyr
ENST00000674083.1:c.10724G>A	ENSP00000501296.1:p.Cys3575Tyr
ENST00000307340.7:c.10724G>A	ENSP00000305941.3:p.Cys3575Tyr
NM_206933.2:c.10724G>A	NP_996816.2:p.Cys3575Tyr
NM_206933.3:c.10724G>A	NP_996816.2:p.Cys3575Tyr
NM_206933.4:c.10724G>A MANE Select	NP_996816.3:p.Cys3575Tyr