Canonical Allele Identifier: CA387462167
Gene: GJB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189533A>C , CM000675.2:g.20189533A>C GRCh38
NC_000013.10:g.20763672A>C , CM000675.1:g.20763672A>C GRCh37
NC_000013.9:g.19661672A>C NCBI36
NG_008358.1:g.8443T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.49T>G ENSP00000372295.1:p.Ser17Ala
ENST00000382848.5:c.49T>G MANE Select ENSP00000372299.4:p.Ser17Ala
ENST00000382844.1:c.49T>G ENSP00000372295.1:p.Ser17Ala
ENST00000382848.4:c.49T>G ENSP00000372299.4:p.Ser17Ala
NM_004004.5:c.49T>G NP_003995.2:p.Ser17Ala
XM_011535049.1:c.49T>G XP_011533351.1:p.Ser17Ala
XM_011535049.2:c.49T>G XP_011533351.1:p.Ser17Ala
NM_004004.6:c.49T>G MANE Select NP_003995.2:p.Ser17Ala