×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA387462295
Gene: GJB2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr13:g.20763717C>G (hg19)
chr13:g.20189578C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.20189578C>G , CM000675.2:g.20189578C>G
GRCh38
NC_000013.10:g.20763717C>G , CM000675.1:g.20763717C>G
GRCh37
NC_000013.9:g.19661717C>G
NCBI36
NG_008358.1:g.8398G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000382844.2:c.4G>C
ENSP00000372295.1:p.Asp2His
ENST00000382848.5:c.4G>C
MANE Select
ENSP00000372299.4:p.Asp2His
ENST00000382844.1:c.4G>C
ENSP00000372295.1:p.Asp2His
ENST00000382848.4:c.4G>C
ENSP00000372299.4:p.Asp2His
NM_004004.5:c.4G>C
NP_003995.2:p.Asp2His
XM_011535049.1:c.4G>C
XP_011533351.1:p.Asp2His
XM_011535049.2:c.4G>C
XP_011533351.1:p.Asp2His
NM_004004.6:c.4G>C
MANE Select
NP_003995.2:p.Asp2His
Search 100 bp 5'
Search 100 bp 3'