Canonical Allele Identifier: CA344850545
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675328A>C , CM000663.2:g.215675328A>C GRCh38
NC_000001.10:g.215848670A>C , CM000663.1:g.215848670A>C GRCh37
NC_000001.9:g.213915293A>C NCBI36
NG_009497.1:g.753069T>G
NG_009497.2:g.753121T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12583T>G MANE Select ENSP00000305941.3:p.Phe4195Val
ENST00000674083.1:c.12583T>G ENSP00000501296.1:p.Phe4195Val
ENST00000307340.7:c.12583T>G ENSP00000305941.3:p.Phe4195Val
NM_206933.2:c.12583T>G NP_996816.2:p.Phe4195Val
NM_206933.3:c.12583T>G NP_996816.2:p.Phe4195Val
NM_206933.4:c.12583T>G MANE Select NP_996816.3:p.Phe4195Val