Canonical Allele Identifier: CA1394312
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1063431
ClinVar RCV Id: RCV001373266 RCV001826115
dbSNP Id: rs139649540
ExAC: 1:215990470 A / G
gnomAD v2: 1-215990470-A-G
gnomAD v3: 1-215817128-A-G
gnomAD v4: 1-215817128-A-G
MyVariant Identifiers: chr1:g.215990470A>G (hg19) chr1:g.215817128A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817128A>G , CM000663.2:g.215817128A>G GRCh38
NC_000001.10:g.215990470A>G , CM000663.1:g.215990470A>G GRCh37
NC_000001.9:g.214057093A>G NCBI36
NG_009497.1:g.611269T>C
NG_009497.2:g.611321T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9439T>C MANE Select ENSP00000305941.3:p.Trp3147Arg
ENST00000674083.1:c.9439T>C ENSP00000501296.1:p.Trp3147Arg
ENST00000307340.7:c.9439T>C ENSP00000305941.3:p.Trp3147Arg
NM_206933.2:c.9439T>C NP_996816.2:p.Trp3147Arg
NM_206933.3:c.9439T>C NP_996816.2:p.Trp3147Arg
NM_206933.4:c.9439T>C MANE Select NP_996816.3:p.Trp3147Arg
Search 100 bp 5'
Search 100 bp 3'