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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:
CA1393059
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1014469
ClinVar RCV Id:
RCV001313209
RCV001835536
dbSNP Id:
rs769420341
ExAC:
1:215823942 C / T
gnomAD v2:
1-215823942-C-T
gnomAD v3:
1-215650600-C-T
gnomAD v4:
1-215650600-C-T
MyVariant Identifiers:
chr1:g.215823942C>T (hg19)
chr1:g.215650600C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.215650600C>T , CM000663.2:g.215650600C>T
GRCh38
NC_000001.10:g.215823942C>T , CM000663.1:g.215823942C>T
GRCh37
NC_000001.9:g.213890565C>T
NCBI36
NG_009497.1:g.777797G>A
NG_009497.2:g.777849G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307340.8:c.14335G>A
MANE Select
ENSP00000305941.3:p.Glu4779Lys
ENST00000674083.1:c.14335G>A
ENSP00000501296.1:p.Glu4779Lys
ENST00000307340.7:c.14335G>A
ENSP00000305941.3:p.Glu4779Lys
NM_206933.2:c.14335G>A
NP_996816.2:p.Glu4779Lys
NM_206933.3:c.14335G>A
NP_996816.2:p.Glu4779Lys
NM_206933.4:c.14335G>A
MANE Select
NP_996816.3:p.Glu4779Lys
Search 100 bp 5'
Search 100 bp 3'