Canonical Allele Identifier: CA143583

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48575
• ClinVar RCV Id: RCV000041901 ; RCV000893876 ; RCV001271990
• dbSNP Id: rs111033508
• ExAC: 1:216138719 G / A
• gnomAD v2: 1-216138719-G-A
• gnomAD v3: 1-215965377-G-A
• gnomAD v4: 1-215965377-G-A
• COSMIC: COSM3483533 ; COSM3483534
• MyVariant Identifiers: chr1:g.216138719G>A (hg19) ; chr1:g.216138719_216138720delinsAA (hg19) ; chr1:g.215965377G>A (hg38) ; chr1:g.215965377_215965378delinsAA (hg38)
• PubMed: PMID:26969326

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215965377G>A , CM000663.2:g.215965377G>A	GRCh38
NC_000001.10:g.216138719G>A , CM000663.1:g.216138719G>A	GRCh37
NC_000001.9:g.214205342G>A	NCBI36
NG_009497.1:g.463020C>T
NG_009497.2:g.463072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7060C>T MANE Select	ENSP00000305941.3:p.Arg2354Cys
ENST00000674083.1:c.7060C>T	ENSP00000501296.1:p.Arg2354Cys
ENST00000307340.7:c.7060C>T	ENSP00000305941.3:p.Arg2354Cys
NM_206933.2:c.7060C>T	NP_996816.2:p.Arg2354Cys
NM_206933.3:c.7060C>T	NP_996816.2:p.Arg2354Cys
NM_206933.4:c.7060C>T MANE Select	NP_996816.3:p.Arg2354Cys