Canonical Allele Identifier: CA1393629

Gene: USH2A

Linked Data

• ClinVar Variation Id: 236537
• ClinVar RCV Id: RCV000225477 ; RCV000482491 ; RCV000675144 ; RCV001252669 ; RCV003324522 ; RCV003137832 ; RCV003469118 ; RCV004532830
• dbSNP Id: rs368675850
• ExAC: 1:215901725 G / A
• gnomAD v2: 1-215901725-G-A
• gnomAD v3: 1-215728383-G-A
• gnomAD v4: 1-215728383-G-A
• MyVariant Identifiers: chr1:g.215901725G>A (hg19) ; chr1:g.215728383G>A (hg38)
• ERepo: CA1393629/MONDO:0019501/005

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215728383G>A , CM000663.2:g.215728383G>A	GRCh38
NC_000001.10:g.215901725G>A , CM000663.1:g.215901725G>A	GRCh37
NC_000001.9:g.213968348G>A	NCBI36
NG_009497.1:g.700014C>T
NG_009497.2:g.700066C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11713C>T MANE Select	ENSP00000305941.3:p.Arg3905Cys
ENST00000674083.1:c.11713C>T	ENSP00000501296.1:p.Arg3905Cys
ENST00000307340.7:c.11713C>T	ENSP00000305941.3:p.Arg3905Cys
NM_206933.2:c.11713C>T	NP_996816.2:p.Arg3905Cys
NM_206933.3:c.11713C>T	NP_996816.2:p.Arg3905Cys
NM_206933.4:c.11713C>T MANE Select	NP_996816.3:p.Arg3905Cys