Canonical Allele Identifier: CA1394519
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 937922
ClinVar RCV Id: RCV001207049 RCV001836140 RCV003449653
dbSNP Id: rs760779633
ExAC: 1:216040453 C / T
gnomAD v2: 1-216040453-C-T
gnomAD v3: 1-215867111-C-T
gnomAD v4: 1-215867111-C-T
MyVariant Identifiers: chr1:g.216040453C>T (hg19) chr1:g.215867111C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215867111C>T , CM000663.2:g.215867111C>T GRCh38
NC_000001.10:g.216040453C>T , CM000663.1:g.216040453C>T GRCh37
NC_000001.9:g.214107076C>T NCBI36
NG_009497.1:g.561286G>A
NG_009497.2:g.561338G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8741G>A MANE Select ENSP00000305941.3:p.Arg2914Gln
ENST00000674083.1:c.8741G>A ENSP00000501296.1:p.Arg2914Gln
ENST00000307340.7:c.8741G>A ENSP00000305941.3:p.Arg2914Gln
NM_206933.2:c.8741G>A NP_996816.2:p.Arg2914Gln
NM_206933.3:c.8741G>A NP_996816.2:p.Arg2914Gln
NM_206933.4:c.8741G>A MANE Select NP_996816.3:p.Arg2914Gln
Search 100 bp 5'
Search 100 bp 3'