Canonical Allele Identifier: CA1430959

Gene: GJC2

Linked Data

• ClinVar Variation Id: 241296
• ClinVar RCV Id: RCV000436644 ; RCV001084409 ; RCV001848000 ; RCV003939882
• dbSNP Id: rs140942230
• ExAC: 1:228346652 C / T
• gnomAD v2: 1-228346652-C-T
• gnomAD v3: 1-228158951-C-T
• gnomAD v4: 1-228158951-C-T
• MyVariant Identifiers: chr1:g.228346652C>T (hg19) ; chr1:g.228158951C>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228158951C>T , CM000663.2:g.228158951C>T	GRCh38
NC_000001.10:g.228346652C>T , CM000663.1:g.228346652C>T	GRCh37
NC_000001.9:g.226413275C>T	NCBI36
NG_011838.1:g.14100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366714.3:c.1193C>T MANE Select	ENSP00000355675.2:p.Thr398Ile
ENST00000366714.2:c.1193C>T	ENSP00000355675.2:p.Thr398Ile
NM_020435.3:c.1193C>T	NP_065168.2:p.Thr398Ile
NM_020435.4:c.1193C>T MANE Select	NP_065168.2:p.Thr398Ile