Canonical Allele Identifier: CA423310351
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215933003T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215759661T>G , CM000663.2:g.215759661T>G GRCh38
NC_000001.10:g.215933003T>G , CM000663.1:g.215933003T>G GRCh37
NC_000001.9:g.213999626T>G NCBI36
NG_009497.1:g.668736A>C
NG_009497.2:g.668788A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11230A>C MANE Select ENSP00000305941.3:p.Arg3744=
ENST00000674083.1:c.11230A>C ENSP00000501296.1:p.Arg3744=
ENST00000307340.7:c.11230A>C ENSP00000305941.3:p.Arg3744=
NM_206933.2:c.11230A>C NP_996816.2:p.Arg3744=
NM_206933.3:c.11230A>C NP_996816.2:p.Arg3744=
NM_206933.4:c.11230A>C MANE Select NP_996816.3:p.Arg3744=