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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:
CA6904336
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
371781
ClinVar RCV Id:
RCV000409687
RCV000410366
RCV000991847
dbSNP Id:
rs371086981
ExAC:
13:20763719 A / G
gnomAD v2:
13-20763719-A-G
gnomAD v3:
13-20189580-A-G
gnomAD v4:
13-20189580-A-G
MyVariant Identifiers:
chr13:g.20763719A>G (hg19)
chr13:g.20189580A>G (hg38)
PubMed:
PMID:12189493
PMID:21094651
ERepo:
CA6904336/MONDO:0019497/005
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.20189580A>G , CM000675.2:g.20189580A>G
GRCh38
NC_000013.10:g.20763719A>G , CM000675.1:g.20763719A>G
GRCh37
NC_000013.9:g.19661719A>G
NCBI36
NG_008358.1:g.8396T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000382844.2:c.2T>C
ENSP00000372295.1:p.Met1Thr
ENST00000382848.5:c.2T>C
MANE Select
ENSP00000372299.4:p.Met1Thr
ENST00000382844.1:c.2T>C
ENSP00000372295.1:p.Met1Thr
ENST00000382848.4:c.2T>C
ENSP00000372299.4:p.Met1Thr
NM_004004.5:c.2T>C
NP_003995.2:p.Met1Thr
XM_011535049.1:c.2T>C
XP_011533351.1:p.Met1Thr
XM_011535049.2:c.2T>C
XP_011533351.1:p.Met1Thr
NM_004004.6:c.2T>C
MANE Select
NP_003995.2:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'