Canonical Allele Identifier: CA277273

Gene: GJB2

Linked Data

• ClinVar Variation Id: 211079
• ClinVar RCV Id: RCV000194203
• dbSNP Id: rs797045596
• MyVariant Identifiers: chr13:g.20763394_20763409del (hg19) ; chr13:g.20189255_20189270del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189256_20189271del , CM000675.2:g.20189256_20189271del	GRCh38
NC_000013.10:g.20763395_20763410del , CM000675.1:g.20763395_20763410del	GRCh37
NC_000013.9:g.19661395_19661410del	NCBI36
NG_008358.1:g.8708_8723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.314_329del	ENSP00000372295.1:p.Lys105ArgfsTer2
ENST00000382848.5:c.314_329del MANE Select	ENSP00000372299.4:p.Lys105ArgfsTer2
ENST00000382844.1:c.314_329del	ENSP00000372295.1:p.Lys105ArgfsTer2
ENST00000382848.4:c.314_329del	ENSP00000372299.4:p.Lys105ArgfsTer2
NM_004004.5:c.314_329del	NP_003995.2:p.Lys105ArgfsTer2
XM_011535049.1:c.314_329del	XP_011533351.1:p.Lys105ArgfsTer2
XM_011535049.2:c.314_329del	XP_011533351.1:p.Lys105ArgfsTer2
NM_004004.6:c.314_329del MANE Select	NP_003995.2:p.Lys105ArgfsTer2