Canonical Allele Identifier: CA37410372
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs34416878

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671432dup , CM000663.2:g.215671432dup GRCh38
NC_000001.10:g.215844774dup , CM000663.1:g.215844774dup GRCh37
NC_000001.9:g.213911397dup NCBI36
NG_009497.1:g.756967dup
NG_009497.2:g.757019dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13812-137dup MANE Select ENSP00000305941.3:n.13812-137dup
ENST00000674083.1:c.13812-137dup ENSP00000501296.1:n.13812-137dup
ENST00000307340.7:c.13812-137dup ENSP00000305941.3:n.13812-137dup
NM_206933.2:c.13812-137dup NP_996816.2:n.13812-137dup
NM_206933.3:c.13812-137dup NP_996816.2:n.13812-137dup
NM_206933.4:c.13812-137dup MANE Select NP_996816.3:n.13812-137dup