Canonical Allele Identifier: CA2574133005
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215780088G>T , CM000663.2:g.215780088G>T GRCh38
NC_000001.10:g.215953430G>T , CM000663.1:g.215953430G>T GRCh37
NC_000001.9:g.214020053G>T NCBI36
NG_009497.1:g.648309C>A
NG_009497.2:g.648361C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10741-47C>A MANE Select ENSP00000305941.3:n.10741-47C>A
ENST00000674083.1:c.10741-47C>A ENSP00000501296.1:n.10741-47C>A
ENST00000307340.7:c.10741-47C>A ENSP00000305941.3:n.10741-47C>A
NM_206933.2:c.10741-47C>A NP_996816.2:n.10741-47C>A
NM_206933.3:c.10741-47C>A NP_996816.2:n.10741-47C>A
NM_206933.4:c.10741-47C>A MANE Select NP_996816.3:n.10741-47C>A