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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:
CA16043841
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374674
ClinVar RCV Id:
RCV000416074
RCV000671186
RCV001074930
RCV003449038
RCV003449039
dbSNP Id:
rs1057519193
gnomAD v3:
1-215759786-C-T
gnomAD v4:
1-215759786-C-T
MyVariant Identifiers:
chr1:g.215933128C>T (hg19)
chr1:g.215759786C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.215759786C>T , CM000663.2:g.215759786C>T
GRCh38
NC_000001.10:g.215933128C>T , CM000663.1:g.215933128C>T
GRCh37
NC_000001.9:g.213999751C>T
NCBI36
NG_009497.1:g.668611G>A
NG_009497.2:g.668663G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307340.8:c.11105G>A
MANE Select
ENSP00000305941.3:p.Trp3702Ter
ENST00000674083.1:c.11105G>A
ENSP00000501296.1:p.Trp3702Ter
ENST00000307340.7:c.11105G>A
ENSP00000305941.3:p.Trp3702Ter
NM_206933.2:c.11105G>A
NP_996816.2:p.Trp3702Ter
NM_206933.3:c.11105G>A
NP_996816.2:p.Trp3702Ter
NM_206933.4:c.11105G>A
MANE Select
NP_996816.3:p.Trp3702Ter
Search 100 bp 5'
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