Canonical Allele Identifier: CA344863662
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216175330T>A , CM000663.2:g.216175330T>A GRCh38
NC_000001.10:g.216348672T>A , CM000663.1:g.216348672T>A GRCh37
NC_000001.9:g.214415295T>A NCBI36
NG_009497.1:g.253067A>T
NG_009497.2:g.253119A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.4549A>T MANE Select ENSP00000305941.3:p.Met1517Leu
ENST00000674083.1:c.4549A>T ENSP00000501296.1:p.Met1517Leu
ENST00000307340.7:c.4549A>T ENSP00000305941.3:p.Met1517Leu
ENST00000366942.3:c.4549A>T ENSP00000355909.3:p.Met1517Leu
NM_007123.5:c.4549A>T NP_009054.5:p.Met1517Leu
NM_206933.2:c.4549A>T NP_996816.2:p.Met1517Leu
NM_206933.3:c.4549A>T NP_996816.2:p.Met1517Leu
NM_007123.6:c.4549A>T NP_009054.6:p.Met1517Leu
NM_206933.4:c.4549A>T MANE Select NP_996816.3:p.Met1517Leu