Canonical Allele Identifier: CA143401
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48464
ClinVar RCV Id: RCV000041787 RCV000504930 RCV000585242 RCV000787986 RCV001271907 RCV002483033
dbSNP Id: rs111033269
ExAC: 1:215802242 C / T
gnomAD v2: 1-215802242-C-T
gnomAD v3: 1-215628900-C-T
gnomAD v4: 1-215628900-C-T
MyVariant Identifiers: chr1:g.215802242C>T (hg19) chr1:g.215802242_215802245delinsTGCT (hg19) chr1:g.215628900C>T (hg38) chr1:g.215628900_215628903delinsTGCT (hg38)
PubMed: PMID:20507924 PMID:20591486 PMID:23591405 PMID:28041643
ERepo: CA143401/MONDO:0016484/005 CA143401/MONDO:0019501/005
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215628900C>T , CM000663.2:g.215628900C>T GRCh38
NC_000001.10:g.215802242C>T , CM000663.1:g.215802242C>T GRCh37
NC_000001.9:g.213868865C>T NCBI36
NG_009497.1:g.799497G>A
NG_009497.2:g.799549G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.15433G>A MANE Select ENSP00000305941.3:p.Val5145Ile
ENST00000674083.1:c.15505G>A ENSP00000501296.1:p.Val5169Ile
ENST00000307340.7:c.15433G>A ENSP00000305941.3:p.Val5145Ile
NM_206933.2:c.15433G>A NP_996816.2:p.Val5145Ile
NM_206933.3:c.15433G>A NP_996816.2:p.Val5145Ile
NM_206933.4:c.15433G>A MANE Select NP_996816.3:p.Val5145Ile
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