Canonical Allele Identifier: CA143283
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48395
ClinVar RCV Id: RCV000041717 RCV000414389 RCV000675157 RCV001004773 RCV001074786 RCV001723628
dbSNP Id: rs111033518
ExAC: 1:215848961 A / T
gnomAD v2: 1-215848961-A-T
gnomAD v3: 1-215675619-A-T
gnomAD v4: 1-215675619-A-T
MyVariant Identifiers: chr1:g.215848961A>T (hg19) chr1:g.215675619A>T (hg38)
ERepo: CA143283/MONDO:0019501/005
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675619A>T , CM000663.2:g.215675619A>T GRCh38
NC_000001.10:g.215848961A>T , CM000663.1:g.215848961A>T GRCh37
NC_000001.9:g.213915584A>T NCBI36
NG_009497.1:g.752778T>A
NG_009497.2:g.752830T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-3T>A MANE Select ENSP00000305941.3:n.12295-3T>A
ENST00000674083.1:c.12295-3T>A ENSP00000501296.1:n.12295-3T>A
ENST00000307340.7:c.12295-3T>A ENSP00000305941.3:n.12295-3T>A
NM_206933.2:c.12295-3T>A NP_996816.2:n.12295-3T>A
NM_206933.3:c.12295-3T>A NP_996816.2:n.12295-3T>A
NM_206933.4:c.12295-3T>A MANE Select NP_996816.3:n.12295-3T>A
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