Canonical Allele Identifier: CA1394184
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 751314
ClinVar RCV Id: RCV000928362 RCV001330643 RCV001276954
dbSNP Id: rs757439664
ExAC: 1:215972301 G / A
gnomAD v2: 1-215972301-G-A
gnomAD v3: 1-215798959-G-A
gnomAD v4: 1-215798959-G-A
MyVariant Identifiers: chr1:g.215972301G>A (hg19) chr1:g.215798959G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798959G>A , CM000663.2:g.215798959G>A GRCh38
NC_000001.10:g.215972301G>A , CM000663.1:g.215972301G>A GRCh37
NC_000001.9:g.214038924G>A NCBI36
NG_009497.1:g.629438C>T
NG_009497.2:g.629490C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9906C>T MANE Select ENSP00000305941.3:p.Asn3302=
ENST00000674083.1:c.9906C>T ENSP00000501296.1:p.Asn3302=
ENST00000307340.7:c.9906C>T ENSP00000305941.3:p.Asn3302=
NM_206933.2:c.9906C>T NP_996816.2:p.Asn3302=
NM_206933.3:c.9906C>T NP_996816.2:p.Asn3302=
NM_206933.4:c.9906C>T MANE Select NP_996816.3:p.Asn3302=
Search 100 bp 5'
Search 100 bp 3'