Canonical Allele Identifier: CA2573132754

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1555200
• ClinVar RCV Id: RCV002192793
• dbSNP Id: rs2102544883

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216246575T>G , CM000663.2:g.216246575T>G	GRCh38
NC_000001.10:g.216419917T>G , CM000663.1:g.216419917T>G	GRCh37
NC_000001.9:g.214486540T>G	NCBI36
NG_009497.1:g.181822A>C
NG_009497.2:g.181874A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2809+10A>C MANE Select	ENSP00000305941.3:n.2809+10A>C
ENST00000674083.1:c.2809+10A>C	ENSP00000501296.1:n.2809+10A>C
ENST00000307340.7:c.2809+10A>C	ENSP00000305941.3:n.2809+10A>C
ENST00000366942.3:c.2809+10A>C	ENSP00000355909.3:n.2809+10A>C
NM_007123.5:c.2809+10A>C	NP_009054.5:n.2809+10A>C
NM_206933.2:c.2809+10A>C	NP_996816.2:n.2809+10A>C
NM_206933.3:c.2809+10A>C	NP_996816.2:n.2809+10A>C
NM_007123.6:c.2809+10A>C	NP_009054.6:n.2809+10A>C
NM_206933.4:c.2809+10A>C MANE Select	NP_996816.3:n.2809+10A>C