Canonical Allele Identifier: CA2573132759

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1456276
• ClinVar RCV Id: RCV001951068
• dbSNP Id: rs2102545572

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216246863_216246864del , CM000663.2:g.216246863_216246864del	GRCh38
NC_000001.10:g.216420205_216420206del , CM000663.1:g.216420205_216420206del	GRCh37
NC_000001.9:g.214486828_214486829del	NCBI36
NG_009497.1:g.181534_181535del
NG_009497.2:g.181586_181587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2531_2532del MANE Select	ENSP00000305941.3:p.Cys844SerfsTer6
ENST00000674083.1:c.2531_2532del	ENSP00000501296.1:p.Cys844SerfsTer6
ENST00000307340.7:c.2531_2532del	ENSP00000305941.3:p.Cys844SerfsTer6
ENST00000366942.3:c.2531_2532del	ENSP00000355909.3:p.Cys844SerfsTer6
NM_007123.5:c.2531_2532del	NP_009054.5:p.Cys844SerfsTer6
NM_206933.2:c.2531_2532del	NP_996816.2:p.Cys844SerfsTer6
NM_206933.3:c.2531_2532del	NP_996816.2:p.Cys844SerfsTer6
NM_007123.6:c.2531_2532del	NP_009054.6:p.Cys844SerfsTer6
NM_206933.4:c.2531_2532del MANE Select	NP_996816.3:p.Cys844SerfsTer6