Canonical Allele Identifier: CA2499214517

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1213940
• ClinVar RCV Id: RCV001591883 ; RCV003451822 ; RCV002495940
• dbSNP Id: rs2102545818

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216246962_216246963del , CM000663.2:g.216246962_216246963del	GRCh38
NC_000001.10:g.216420304_216420305del , CM000663.1:g.216420304_216420305del	GRCh37
NC_000001.9:g.214486927_214486928del	NCBI36
NG_009497.1:g.181434_181435del
NG_009497.2:g.181486_181487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2431_2432del MANE Select	ENSP00000305941.3:p.Lys811AspfsTer11
ENST00000674083.1:c.2431_2432del	ENSP00000501296.1:p.Lys811AspfsTer11
ENST00000307340.7:c.2431_2432del	ENSP00000305941.3:p.Lys811AspfsTer11
ENST00000366942.3:c.2431_2432del	ENSP00000355909.3:p.Lys811AspfsTer11
NM_007123.5:c.2431_2432del	NP_009054.5:p.Lys811AspfsTer11
NM_206933.2:c.2431_2432del	NP_996816.2:p.Lys811AspfsTer11
NM_206933.3:c.2431_2432del	NP_996816.2:p.Lys811AspfsTer11
NM_007123.6:c.2431_2432del	NP_009054.6:p.Lys811AspfsTer11
NM_206933.4:c.2431_2432del MANE Select	NP_996816.3:p.Lys811AspfsTer11