Canonical Allele Identifier: CA1394829
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 286836
ClinVar RCV Id: RCV000373313 RCV000504866 RCV000670917 RCV000826074 RCV001073464 RCV001274241
dbSNP Id: rs483353056
ExAC: 1:216073536 G / A
gnomAD v2: 1-216073536-G-A
gnomAD v3: 1-215900194-G-A
gnomAD v4: 1-215900194-G-A
COSMIC: COSM3483518 COSM3483519
MyVariant Identifiers: chr1:g.216073536G>A (hg19) chr1:g.215900194G>A (hg38)
PubMed: PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215900194G>A , CM000663.2:g.215900194G>A GRCh38
NC_000001.10:g.216073536G>A , CM000663.1:g.216073536G>A GRCh37
NC_000001.9:g.214140159G>A NCBI36
NG_009497.1:g.528203C>T
NG_009497.2:g.528255C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.7475C>T MANE Select ENSP00000305941.3:p.Ser2492Leu
ENST00000674083.1:c.7475C>T ENSP00000501296.1:p.Ser2492Leu
ENST00000307340.7:c.7475C>T ENSP00000305941.3:p.Ser2492Leu
NM_206933.2:c.7475C>T NP_996816.2:p.Ser2492Leu
NM_206933.3:c.7475C>T NP_996816.2:p.Ser2492Leu
NM_206933.4:c.7475C>T MANE Select NP_996816.3:p.Ser2492Leu
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