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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:
CA143566
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48566
ClinVar RCV Id:
RCV000041892
RCV000923089
RCV001826600
RCV003450878
RCV003888403
dbSNP Id:
rs117461552
ExAC:
1:216166484 A / T
gnomAD v2:
1-216166484-A-T
gnomAD v3:
1-215993142-A-T
gnomAD v4:
1-215993142-A-T
MyVariant Identifiers:
chr1:g.216166484A>T (hg19)
chr1:g.215993142A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.215993142A>T , CM000663.2:g.215993142A>T
GRCh38
NC_000001.10:g.216166484A>T , CM000663.1:g.216166484A>T
GRCh37
NC_000001.9:g.214233107A>T
NCBI36
NG_009497.1:g.435255T>A
NG_009497.2:g.435307T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307340.8:c.6683T>A
MANE Select
ENSP00000305941.3:p.Val2228Glu
ENST00000674083.1:c.6683T>A
ENSP00000501296.1:p.Val2228Glu
ENST00000307340.7:c.6683T>A
ENSP00000305941.3:p.Val2228Glu
NM_206933.2:c.6683T>A
NP_996816.2:p.Val2228Glu
NM_206933.3:c.6683T>A
NP_996816.2:p.Val2228Glu
NM_206933.4:c.6683T>A
MANE Select
NP_996816.3:p.Val2228Glu
Search 100 bp 5'
Search 100 bp 3'