Canonical Allele Identifier: CA143605
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48588
ClinVar RCV Id: RCV000041914 RCV000672278 RCV002514163 RCV003450891 RCV003450892
dbSNP Id: rs397518033
gnomAD v2: 1-216062307-C-A
gnomAD v4: 1-215888965-C-A
MyVariant Identifiers: chr1:g.216062307C>A (hg19) chr1:g.215888965C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215888965C>A , CM000663.2:g.215888965C>A GRCh38
NC_000001.10:g.216062307C>A , CM000663.1:g.216062307C>A GRCh37
NC_000001.9:g.214128930C>A NCBI36
NG_009497.1:g.539432G>T
NG_009497.2:g.539484G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.7684G>T MANE Select ENSP00000305941.3:p.Val2562Phe
ENST00000674083.1:c.7684G>T ENSP00000501296.1:p.Val2562Phe
ENST00000307340.7:c.7684G>T ENSP00000305941.3:p.Val2562Phe
NM_206933.2:c.7684G>T NP_996816.2:p.Val2562Phe
NM_206933.3:c.7684G>T NP_996816.2:p.Val2562Phe
NM_206933.4:c.7684G>T MANE Select NP_996816.3:p.Val2562Phe
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