Canonical Allele Identifier: CA212785
Gene: GJC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2073
ClinVar RCV Id: RCV000002154
dbSNP Id: rs796065027
gnomAD v4: 1-228158744-GC-G
MyVariant Identifiers: chr1:g.228346448del (hg19) chr1:g.228158747del (hg38)
PubMed: PMID:15192806
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158747del , CM000663.2:g.228158747del GRCh38
NC_000001.10:g.228346448del , CM000663.1:g.228346448del GRCh37
NC_000001.9:g.226413071del NCBI36
NG_011838.1:g.13896del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366714.3:c.989del MANE Select ENSP00000355675.2:p.Pro330ArgfsTer?
ENST00000366714.2:c.989del ENSP00000355675.2:p.Pro330ArgfsTer?
NM_020435.3:c.989del NP_065168.2:p.Pro330ArgfsTer?
NM_020435.4:c.989del MANE Select NP_065168.2:p.Pro330ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'