Canonical Allele Identifier: CA1395222

Gene: USH2A

Linked Data

• ClinVar Variation Id: 497726
• ClinVar RCV Id: RCV000596278 ; RCV000667726 ; RCV001074344 ; RCV001003270 ; RCV001269147 ; RCV003326139
• dbSNP Id: rs769838859
• ExAC: 1:216221879 CT / C
• gnomAD v2: 1-216221879-CT-C
• gnomAD v4: 1-216048537-CT-C
• MyVariant Identifiers: chr1:g.216221880del (hg19) ; chr1:g.216048538del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216048539del , CM000663.2:g.216048539del	GRCh38
NC_000001.10:g.216221881del , CM000663.1:g.216221881del	GRCh37
NC_000001.9:g.214288504del	NCBI36
NG_009497.1:g.379859del
NG_009497.2:g.379911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6159del MANE Select	ENSP00000305941.3:p.Glu2054LysfsTer10
ENST00000674083.1:c.6159del	ENSP00000501296.1:p.Glu2054LysfsTer10
ENST00000307340.7:c.6159del	ENSP00000305941.3:p.Glu2054LysfsTer10
NM_206933.2:c.6159del	NP_996816.2:p.Glu2054LysfsTer10
NM_206933.3:c.6159del	NP_996816.2:p.Glu2054LysfsTer10
NM_206933.4:c.6159del MANE Select	NP_996816.3:p.Glu2054LysfsTer10