Canonical Allele Identifier: CA115331
Gene: GJC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2071
ClinVar RCV Id: RCV000002152 RCV002287318
dbSNP Id: rs74315311
gnomAD v2: 1-228346316-T-C
gnomAD v4: 1-228158615-T-C
MyVariant Identifiers: chr1:g.228346316T>C (hg19) chr1:g.228158615T>C (hg38)
PubMed: PMID:15192806 PMID:17344063
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158615T>C , CM000663.2:g.228158615T>C GRCh38
NC_000001.10:g.228346316T>C , CM000663.1:g.228346316T>C GRCh37
NC_000001.9:g.226412939T>C NCBI36
NG_011838.1:g.13764T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366714.3:c.857T>C MANE Select ENSP00000355675.2:p.Met286Thr
ENST00000366714.2:c.857T>C ENSP00000355675.2:p.Met286Thr
NM_020435.3:c.857T>C NP_065168.2:p.Met286Thr
NM_020435.4:c.857T>C MANE Select NP_065168.2:p.Met286Thr
Search 100 bp 5'
Search 100 bp 3'