Canonical Allele Identifier: CA1394316
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 73556
ClinVar RCV Id: RCV001036584 RCV001073325 RCV001252675 RCV001723641 RCV002498352 RCV003460656
dbSNP Id: rs267598373
ExAC: 1:215990476 G / A
gnomAD v2: 1-215990476-G-A
gnomAD v3: 1-215817134-G-A
gnomAD v4: 1-215817134-G-A
MyVariant Identifiers: chr1:g.215990476G>A (hg19) chr1:g.215817134G>A (hg38)
ERepo: CA1394316/MONDO:0019501/005
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817134G>A , CM000663.2:g.215817134G>A GRCh38
NC_000001.10:g.215990476G>A , CM000663.1:g.215990476G>A GRCh37
NC_000001.9:g.214057099G>A NCBI36
NG_009497.1:g.611263C>T
NG_009497.2:g.611315C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9433C>T MANE Select ENSP00000305941.3:p.Leu3145Phe
ENST00000674083.1:c.9433C>T ENSP00000501296.1:p.Leu3145Phe
ENST00000307340.7:c.9433C>T ENSP00000305941.3:p.Leu3145Phe
NM_206933.2:c.9433C>T NP_996816.2:p.Leu3145Phe
NM_206933.3:c.9433C>T NP_996816.2:p.Leu3145Phe
NM_206933.4:c.9433C>T MANE Select NP_996816.3:p.Leu3145Phe
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