Canonical Allele Identifier: CA1392901
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1108650
ClinVar RCV Id: RCV001434225
dbSNP Id: rs749286172
ExAC: 1:215813994 G / A
gnomAD v2: 1-215813994-G-A
gnomAD v4: 1-215640652-G-A
COSMIC: COSM678643 COSM4863143
MyVariant Identifiers: chr1:g.215813994G>A (hg19) chr1:g.215640652G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640652G>A , CM000663.2:g.215640652G>A GRCh38
NC_000001.10:g.215813994G>A , CM000663.1:g.215813994G>A GRCh37
NC_000001.9:g.213880617G>A NCBI36
NG_009497.1:g.787745C>T
NG_009497.2:g.787797C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14874C>T MANE Select ENSP00000305941.3:p.Asn4958=
ENST00000674083.1:c.14874C>T ENSP00000501296.1:p.Asn4958=
ENST00000307340.7:c.14874C>T ENSP00000305941.3:p.Asn4958=
NM_206933.2:c.14874C>T NP_996816.2:p.Asn4958=
NM_206933.3:c.14874C>T NP_996816.2:p.Asn4958=
NM_206933.4:c.14874C>T MANE Select NP_996816.3:p.Asn4958=
Search 100 bp 5'
Search 100 bp 3'