Canonical Allele Identifier: CA1394189
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 438036
ClinVar RCV Id: RCV000504661 RCV000593818 RCV001075611 RCV001376250 RCV001810454
dbSNP Id: rs749228276
ExAC: 1:215972325 G / C
gnomAD v2: 1-215972325-G-C
gnomAD v3: 1-215798983-G-C
gnomAD v4: 1-215798983-G-C
MyVariant Identifiers: chr1:g.215972325G>C (hg19) chr1:g.215798983G>C (hg38)
PubMed: PMID:24043777 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798983G>C , CM000663.2:g.215798983G>C GRCh38
NC_000001.10:g.215972325G>C , CM000663.1:g.215972325G>C GRCh37
NC_000001.9:g.214038948G>C NCBI36
NG_009497.1:g.629414C>G
NG_009497.2:g.629466C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9882C>G MANE Select ENSP00000305941.3:p.Cys3294Trp
ENST00000674083.1:c.9882C>G ENSP00000501296.1:p.Cys3294Trp
ENST00000307340.7:c.9882C>G ENSP00000305941.3:p.Cys3294Trp
NM_206933.2:c.9882C>G NP_996816.2:p.Cys3294Trp
NM_206933.3:c.9882C>G NP_996816.2:p.Cys3294Trp
NM_206933.4:c.9882C>G MANE Select NP_996816.3:p.Cys3294Trp
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