Canonical Allele Identifier: CA1220416883
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1558095490

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782321A>G , CM000663.2:g.215782321A>G GRCh38
NC_000001.10:g.215955663A>G , CM000663.1:g.215955663A>G GRCh37
NC_000001.9:g.214022286A>G NCBI36
NG_009497.1:g.646076T>C
NG_009497.2:g.646128T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10586-125T>C MANE Select ENSP00000305941.3:n.10586-125T>C
ENST00000674083.1:c.10586-125T>C ENSP00000501296.1:n.10586-125T>C
ENST00000307340.7:c.10586-125T>C ENSP00000305941.3:n.10586-125T>C
NM_206933.2:c.10586-125T>C NP_996816.2:n.10586-125T>C
NM_206933.3:c.10586-125T>C NP_996816.2:n.10586-125T>C
NM_206933.4:c.10586-125T>C MANE Select NP_996816.3:n.10586-125T>C