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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:
CA172205
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17029
ClinVar RCV Id:
RCV000018557
RCV000146002
RCV000211766
RCV000418755
RCV000678858
RCV000762908
RCV001004401
dbSNP Id:
rs80338940
gnomAD v2:
13-20766921-C-T
gnomAD v3:
13-20192782-C-T
gnomAD v4:
13-20192782-C-T
MyVariant Identifiers:
chr13:g.20766921C>T (hg19)
chr13:g.20192782C>T (hg38)
PubMed:
PMID:10218527
PMID:10376574
PMID:11313763
PMID:11493200
PMID:11807148
PMID:11935342
PMID:12176036
PMID:12746422
PMID:14985372
PMID:15954104
PMID:16380907
PMID:16650079
PMID:16712961
PMID:16840571
PMID:17406097
PMID:17935238
PMID:19814620
PMID:20022641
PMID:20086291
PMID:20201936
PMID:20301449
PMID:21122151
PMID:21776002
PMID:22000900
PMID:22281373
PMID:22567369
PMID:23680645
PMID:24529908
PMID:24840842
PMID:25012701
PMID:25288386
PMID:25555641
PMID:26096904
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.20192782C>T , CM000675.2:g.20192782C>T
GRCh38
NC_000013.10:g.20766921C>T , CM000675.1:g.20766921C>T
GRCh37
NC_000013.9:g.19664921C>T
NCBI36
NG_008358.1:g.5194G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000382848.5:c.-23+1G>A
MANE Select
ENSP00000372299.4:n.-23+1G>A
ENST00000382848.4:c.-23+1G>A
ENSP00000372299.4:n.-23+1G>A
NM_004004.5:c.-23+1G>A
NP_003995.2:n.-23+1G>A
NM_004004.6:c.-23+1G>A
MANE Select
NP_003995.2:n.-23+1G>A
Search 100 bp 5'
Search 100 bp 3'