Canonical Allele Identifier: CA387460823
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763120T>G (hg19) chr13:g.20188981T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188981T>G , CM000675.2:g.20188981T>G GRCh38
NC_000013.10:g.20763120T>G , CM000675.1:g.20763120T>G GRCh37
NC_000013.9:g.19661120T>G NCBI36
NG_008358.1:g.8995A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.601A>C ENSP00000372295.1:p.Ile201Leu
ENST00000382848.5:c.601A>C MANE Select ENSP00000372299.4:p.Ile201Leu
ENST00000382844.1:c.601A>C ENSP00000372295.1:p.Ile201Leu
ENST00000382848.4:c.601A>C ENSP00000372299.4:p.Ile201Leu
NM_004004.5:c.601A>C NP_003995.2:p.Ile201Leu
XM_011535049.1:c.601A>C XP_011533351.1:p.Ile201Leu
XM_011535049.2:c.601A>C XP_011533351.1:p.Ile201Leu
NM_004004.6:c.601A>C MANE Select NP_003995.2:p.Ile201Leu
Search 100 bp 5'
Search 100 bp 3'