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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:
CA387462281
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2575784
ClinVar RCV Id:
RCV003321350
MyVariant Identifiers:
chr13:g.20763713C>G (hg19)
chr13:g.20189574C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.20189574C>G , CM000675.2:g.20189574C>G
GRCh38
NC_000013.10:g.20763713C>G , CM000675.1:g.20763713C>G
GRCh37
NC_000013.9:g.19661713C>G
NCBI36
NG_008358.1:g.8402G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000382844.2:c.8G>C
ENSP00000372295.1:p.Trp3Ser
ENST00000382848.5:c.8G>C
MANE Select
ENSP00000372299.4:p.Trp3Ser
ENST00000382844.1:c.8G>C
ENSP00000372295.1:p.Trp3Ser
ENST00000382848.4:c.8G>C
ENSP00000372299.4:p.Trp3Ser
NM_004004.5:c.8G>C
NP_003995.2:p.Trp3Ser
XM_011535049.1:c.8G>C
XP_011533351.1:p.Trp3Ser
XM_011535049.2:c.8G>C
XP_011533351.1:p.Trp3Ser
NM_004004.6:c.8G>C
MANE Select
NP_003995.2:p.Trp3Ser
Search 100 bp 5'
Search 100 bp 3'