Canonical Allele Identifier: CA246463574
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs866656241
MyVariant Identifiers: chr13:g.20766923T>G (hg19) chr13:g.20192784T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192784T>G , CM000675.2:g.20192784T>G GRCh38
NC_000013.10:g.20766923T>G , CM000675.1:g.20766923T>G GRCh37
NC_000013.9:g.19664923T>G NCBI36
NG_008358.1:g.5192A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-24A>C MANE Select ENSP00000372299.4:n.-24A>C
ENST00000382848.4:c.-24A>C ENSP00000372299.4:n.-24A>C
NM_004004.5:c.-24A>C NP_003995.2:n.-24A>C
NM_004004.6:c.-24A>C MANE Select NP_003995.2:n.-24A>C
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