Canonical Allele Identifier: CA185267

Gene: USH2A

Linked Data

• ClinVar Variation Id: 179851
• ClinVar RCV Id: RCV000156650 ; RCV000666738 ; RCV001238988
• dbSNP Id: rs727505170
• ExAC: 1:215853510 C / T
• gnomAD v2: 1-215853510-C-T
• gnomAD v3: 1-215680168-C-T
• gnomAD v4: 1-215680168-C-T
• MyVariant Identifiers: chr1:g.215853510C>T (hg19) ; chr1:g.215853510_215853511delinsTT (hg19) ; chr1:g.215680168C>T (hg38) ; chr1:g.215680168_215680169delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680168C>T , CM000663.2:g.215680168C>T	GRCh38
NC_000001.10:g.215853510C>T , CM000663.1:g.215853510C>T	GRCh37
NC_000001.9:g.213920133C>T	NCBI36
NG_009497.1:g.748229G>A
NG_009497.2:g.748281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12275G>A MANE Select	ENSP00000305941.3:p.Arg4092Lys
ENST00000674083.1:c.12275G>A	ENSP00000501296.1:p.Arg4092Lys
ENST00000307340.7:c.12275G>A	ENSP00000305941.3:p.Arg4092Lys
NM_206933.2:c.12275G>A	NP_996816.2:p.Arg4092Lys
NM_206933.3:c.12275G>A	NP_996816.2:p.Arg4092Lys
NM_206933.4:c.12275G>A MANE Select	NP_996816.3:p.Arg4092Lys