Canonical Allele Identifier: CA1393266
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 742389
ClinVar RCV Id: RCV003454951 RCV003454952
dbSNP Id: rs139701970
ExAC: 1:215847690 A / G
gnomAD v2: 1-215847690-A-G
gnomAD v3: 1-215674348-A-G
gnomAD v4: 1-215674348-A-G
MyVariant Identifiers: chr1:g.215847690A>G (hg19) chr1:g.215674348A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674348A>G , CM000663.2:g.215674348A>G GRCh38
NC_000001.10:g.215847690A>G , CM000663.1:g.215847690A>G GRCh37
NC_000001.9:g.213914313A>G NCBI36
NG_009497.1:g.754049T>C
NG_009497.2:g.754101T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.13563T>C MANE Select ENSP00000305941.3:p.Pro4521=
ENST00000674083.1:c.13563T>C ENSP00000501296.1:p.Pro4521=
ENST00000307340.7:c.13563T>C ENSP00000305941.3:p.Pro4521=
NM_206933.2:c.13563T>C NP_996816.2:p.Pro4521=
NM_206933.3:c.13563T>C NP_996816.2:p.Pro4521=
NM_206933.4:c.13563T>C MANE Select NP_996816.3:p.Pro4521=
Search 100 bp 5'
Search 100 bp 3'