Canonical Allele Identifier: CA387462196
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763679G>T (hg19) chr13:g.20189540G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189540G>T , CM000675.2:g.20189540G>T GRCh38
NC_000013.10:g.20763679G>T , CM000675.1:g.20763679G>T GRCh37
NC_000013.9:g.19661679G>T NCBI36
NG_008358.1:g.8436C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.42C>A ENSP00000372295.1:p.Asn14Lys
ENST00000382848.5:c.42C>A MANE Select ENSP00000372299.4:p.Asn14Lys
ENST00000382844.1:c.42C>A ENSP00000372295.1:p.Asn14Lys
ENST00000382848.4:c.42C>A ENSP00000372299.4:p.Asn14Lys
NM_004004.5:c.42C>A NP_003995.2:p.Asn14Lys
XM_011535049.1:c.42C>A XP_011533351.1:p.Asn14Lys
XM_011535049.2:c.42C>A XP_011533351.1:p.Asn14Lys
NM_004004.6:c.42C>A MANE Select NP_003995.2:p.Asn14Lys
Search 100 bp 5'
Search 100 bp 3'