Canonical Allele Identifier: CA2523314340
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070311G>T , CM000663.2:g.216070311G>T GRCh38
NC_000001.10:g.216243653G>T , CM000663.1:g.216243653G>T GRCh37
NC_000001.9:g.214310276G>T NCBI36
NG_009497.1:g.358086C>A
NG_009497.2:g.358138C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5858-19C>A MANE Select ENSP00000305941.3:n.5858-19C>A
ENST00000674083.1:c.5858-19C>A ENSP00000501296.1:n.5858-19C>A
ENST00000307340.7:c.5858-19C>A ENSP00000305941.3:n.5858-19C>A
NM_206933.2:c.5858-19C>A NP_996816.2:n.5858-19C>A
NM_206933.3:c.5858-19C>A NP_996816.2:n.5858-19C>A
NM_206933.4:c.5858-19C>A MANE Select NP_996816.3:n.5858-19C>A