Canonical Allele Identifier: CA143592
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48581
ClinVar RCV Id: RCV000041907 RCV000504969 RCV000667058 RCV000923961 RCV001171531 RCV003224127 RCV001271984
dbSNP Id: rs41315579
ExAC: 1:216074214 G / A
gnomAD v2: 1-216074214-G-A
gnomAD v3: 1-215900872-G-A
gnomAD v4: 1-215900872-G-A
MyVariant Identifiers: chr1:g.216074214G>A (hg19) chr1:g.215900872G>A (hg38)
ERepo: CA143592/MONDO:0019501/005
PubMed: PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215900872G>A , CM000663.2:g.215900872G>A GRCh38
NC_000001.10:g.216074214G>A , CM000663.1:g.216074214G>A GRCh37
NC_000001.9:g.214140837G>A NCBI36
NG_009497.1:g.527525C>T
NG_009497.2:g.527577C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.7334C>T MANE Select ENSP00000305941.3:p.Ser2445Phe
ENST00000674083.1:c.7334C>T ENSP00000501296.1:p.Ser2445Phe
ENST00000307340.7:c.7334C>T ENSP00000305941.3:p.Ser2445Phe
NM_206933.2:c.7334C>T NP_996816.2:p.Ser2445Phe
NM_206933.3:c.7334C>T NP_996816.2:p.Ser2445Phe
NM_206933.4:c.7334C>T MANE Select NP_996816.3:p.Ser2445Phe
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