Canonical Allele Identifier: CA1393495
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2962971
ClinVar RCV Id: RCV003828081
dbSNP Id: rs376269261
ExAC: 1:215848951 T / A
gnomAD v2: 1-215848951-T-A
gnomAD v4: 1-215675609-T-A
MyVariant Identifiers: chr1:g.215848951T>A (hg19) chr1:g.215675609T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675609T>A , CM000663.2:g.215675609T>A GRCh38
NC_000001.10:g.215848951T>A , CM000663.1:g.215848951T>A GRCh37
NC_000001.9:g.213915574T>A NCBI36
NG_009497.1:g.752788A>T
NG_009497.2:g.752840A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12302A>T MANE Select ENSP00000305941.3:p.Asn4101Ile
ENST00000674083.1:c.12302A>T ENSP00000501296.1:p.Asn4101Ile
ENST00000307340.7:c.12302A>T ENSP00000305941.3:p.Asn4101Ile
NM_206933.2:c.12302A>T NP_996816.2:p.Asn4101Ile
NM_206933.3:c.12302A>T NP_996816.2:p.Asn4101Ile
NM_206933.4:c.12302A>T MANE Select NP_996816.3:p.Asn4101Ile
Search 100 bp 5'
Search 100 bp 3'