Canonical Allele Identifier: CA143497
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48521
ClinVar RCV Id: RCV000041847 RCV000087011 RCV000504950 RCV000624538 RCV001261016
dbSNP Id: rs111033333
ExAC: 1:216270469 G / A
gnomAD v2: 1-216270469-G-A
gnomAD v3: 1-216097127-G-A
gnomAD v4: 1-216097127-G-A
MyVariant Identifiers: chr1:g.216270469G>A (hg19) chr1:g.216097127G>A (hg38)
ERepo: CA143497/MONDO:0019501/005
PubMed: PMID:10729113 PMID:10775529 PMID:11311042 PMID:12525556 PMID:15325563 PMID:17085681 PMID:17296898 PMID:18665195 PMID:20145675 PMID:21174530 PMID:21234346 PMID:22025579 PMID:22495311 PMID:23352160 PMID:23891399 PMID:24160897 PMID:24944099 PMID:25649381 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216097127G>A , CM000663.2:g.216097127G>A GRCh38
NC_000001.10:g.216270469G>A , CM000663.1:g.216270469G>A GRCh37
NC_000001.9:g.214337092G>A NCBI36
NG_009497.1:g.331270C>T
NG_009497.2:g.331322C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.4714C>T MANE Select ENSP00000305941.3:p.Leu1572Phe
ENST00000674083.1:c.4714C>T ENSP00000501296.1:p.Leu1572Phe
ENST00000307340.7:c.4714C>T ENSP00000305941.3:p.Leu1572Phe
NM_206933.2:c.4714C>T NP_996816.2:p.Leu1572Phe
NM_206933.3:c.4714C>T NP_996816.2:p.Leu1572Phe
NM_206933.4:c.4714C>T MANE Select NP_996816.3:p.Leu1572Phe
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