Canonical Allele Identifier: CA731338830
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1453202726

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782340C>A , CM000663.2:g.215782340C>A GRCh38
NC_000001.10:g.215955682C>A , CM000663.1:g.215955682C>A GRCh37
NC_000001.9:g.214022305C>A NCBI36
NG_009497.1:g.646057G>T
NG_009497.2:g.646109G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10586-144G>T MANE Select ENSP00000305941.3:n.10586-144G>T
ENST00000674083.1:c.10586-144G>T ENSP00000501296.1:n.10586-144G>T
ENST00000307340.7:c.10586-144G>T ENSP00000305941.3:n.10586-144G>T
NM_206933.2:c.10586-144G>T NP_996816.2:n.10586-144G>T
NM_206933.3:c.10586-144G>T NP_996816.2:n.10586-144G>T
NM_206933.4:c.10586-144G>T MANE Select NP_996816.3:n.10586-144G>T