Canonical Allele Identifier: CA344844627
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674354C>A , CM000663.2:g.215674354C>A GRCh38
NC_000001.10:g.215847696C>A , CM000663.1:g.215847696C>A GRCh37
NC_000001.9:g.213914319C>A NCBI36
NG_009497.1:g.754043G>T
NG_009497.2:g.754095G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13557G>T MANE Select ENSP00000305941.3:p.Leu4519Phe
ENST00000674083.1:c.13557G>T ENSP00000501296.1:p.Leu4519Phe
ENST00000307340.7:c.13557G>T ENSP00000305941.3:p.Leu4519Phe
NM_206933.2:c.13557G>T NP_996816.2:p.Leu4519Phe
NM_206933.3:c.13557G>T NP_996816.2:p.Leu4519Phe
NM_206933.4:c.13557G>T MANE Select NP_996816.3:p.Leu4519Phe