Canonical Allele Identifier: CA344902485
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1001682
ClinVar RCV Id: RCV001298014
dbSNP Id: rs1472492116
gnomAD v2: 1-216591930-C-A
gnomAD v3: 1-216418588-C-A
gnomAD v4: 1-216418588-C-A
MyVariant Identifiers: chr1:g.216591930C>A (hg19) chr1:g.216418588C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216418588C>A , CM000663.2:g.216418588C>A GRCh38
NC_000001.10:g.216591930C>A , CM000663.1:g.216591930C>A GRCh37
NC_000001.9:g.214658553C>A NCBI36
NG_009497.1:g.9809G>T
NG_009497.2:g.9861G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.577G>T MANE Select ENSP00000305941.3:p.Gly193Cys
ENST00000674083.1:c.577G>T ENSP00000501296.1:p.Gly193Cys
ENST00000307340.7:c.577G>T ENSP00000305941.3:p.Gly193Cys
ENST00000366942.3:c.577G>T ENSP00000355909.3:p.Gly193Cys
NM_007123.5:c.577G>T NP_009054.5:p.Gly193Cys
NM_206933.2:c.577G>T NP_996816.2:p.Gly193Cys
NM_206933.3:c.577G>T NP_996816.2:p.Gly193Cys
NM_007123.6:c.577G>T NP_009054.6:p.Gly193Cys
NM_206933.4:c.577G>T MANE Select NP_996816.3:p.Gly193Cys
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