Canonical Allele Identifier: CA423427808
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1079497
ClinVar RCV Id: RCV001394778
dbSNP Id: rs1195050308
gnomAD v4: 1-215675140-C-T
MyVariant Identifiers: chr1:g.215848482C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675140C>T , CM000663.2:g.215675140C>T GRCh38
NC_000001.10:g.215848482C>T , CM000663.1:g.215848482C>T GRCh37
NC_000001.9:g.213915105C>T NCBI36
NG_009497.1:g.753257G>A
NG_009497.2:g.753309G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12771G>A MANE Select ENSP00000305941.3:p.Arg4257=
ENST00000674083.1:c.12771G>A ENSP00000501296.1:p.Arg4257=
ENST00000307340.7:c.12771G>A ENSP00000305941.3:p.Arg4257=
NM_206933.2:c.12771G>A NP_996816.2:p.Arg4257=
NM_206933.3:c.12771G>A NP_996816.2:p.Arg4257=
NM_206933.4:c.12771G>A MANE Select NP_996816.3:p.Arg4257=
Search 100 bp 5'
Search 100 bp 3'