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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA16044155
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226441
ClinVar RCV Id:
RCV000216234
RCV000675100
RCV001004786
RCV001056911
RCV001376499
RCV001723791
RCV001833176
dbSNP Id:
rs1057519382
gnomAD v3:
1-215798944-A-C
gnomAD v4:
1-215798944-A-C
MyVariant Identifiers:
chr1:g.215972286A>C (hg19)
chr1:g.215798944A>C (hg38)
ERepo:
CA16044155/MONDO:0019501/005
PubMed:
PMID:20301442
PMID:21569298
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.215798944A>C , CM000663.2:g.215798944A>C
GRCh38
NC_000001.10:g.215972286A>C , CM000663.1:g.215972286A>C
GRCh37
NC_000001.9:g.214038909A>C
NCBI36
NG_009497.1:g.629453T>G
NG_009497.2:g.629505T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000307340.8:c.9921T>G
MANE Select
ENSP00000305941.3:p.Cys3307Trp
ENST00000674083.1:c.9921T>G
ENSP00000501296.1:p.Cys3307Trp
ENST00000307340.7:c.9921T>G
ENSP00000305941.3:p.Cys3307Trp
NM_206933.2:c.9921T>G
NP_996816.2:p.Cys3307Trp
NM_206933.3:c.9921T>G
NP_996816.2:p.Cys3307Trp
NM_206933.4:c.9921T>G
MANE Select
NP_996816.3:p.Cys3307Trp
Search 100 bp 5'
Search 100 bp 3'