Canonical Allele Identifier: CA423430105
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215901633G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728291G>A , CM000663.2:g.215728291G>A GRCh38
NC_000001.10:g.215901633G>A , CM000663.1:g.215901633G>A GRCh37
NC_000001.9:g.213968256G>A NCBI36
NG_009497.1:g.700106C>T
NG_009497.2:g.700158C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11805C>T MANE Select ENSP00000305941.3:p.Phe3935=
ENST00000674083.1:c.11805C>T ENSP00000501296.1:p.Phe3935=
ENST00000307340.7:c.11805C>T ENSP00000305941.3:p.Phe3935=
NM_206933.2:c.11805C>T NP_996816.2:p.Phe3935=
NM_206933.3:c.11805C>T NP_996816.2:p.Phe3935=
NM_206933.4:c.11805C>T MANE Select NP_996816.3:p.Phe3935=