Canonical Allele Identifier: CA344863755
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216175375G>T , CM000663.2:g.216175375G>T GRCh38
NC_000001.10:g.216348717G>T , CM000663.1:g.216348717G>T GRCh37
NC_000001.9:g.214415340G>T NCBI36
NG_009497.1:g.253022C>A
NG_009497.2:g.253074C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.4504C>A MANE Select ENSP00000305941.3:p.Leu1502Met
ENST00000674083.1:c.4504C>A ENSP00000501296.1:p.Leu1502Met
ENST00000307340.7:c.4504C>A ENSP00000305941.3:p.Leu1502Met
ENST00000366942.3:c.4504C>A ENSP00000355909.3:p.Leu1502Met
NM_007123.5:c.4504C>A NP_009054.5:p.Leu1502Met
NM_206933.2:c.4504C>A NP_996816.2:p.Leu1502Met
NM_206933.3:c.4504C>A NP_996816.2:p.Leu1502Met
NM_007123.6:c.4504C>A NP_009054.6:p.Leu1502Met
NM_206933.4:c.4504C>A MANE Select NP_996816.3:p.Leu1502Met