Canonical Allele Identifier: CA1430934

Gene: GJC2

Linked Data

• ClinVar Variation Id: 235661
• ClinVar RCV Id: RCV000224481 ; RCV001086089 ; RCV001847952
• dbSNP Id: rs760502262
• ExAC: 1:228346406 C / T
• gnomAD v2: 1-228346406-C-T
• gnomAD v3: 1-228158705-C-T
• gnomAD v4: 1-228158705-C-T
• MyVariant Identifiers: chr1:g.228346406C>T (hg19) ; chr1:g.228158705C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228158705C>T , CM000663.2:g.228158705C>T	GRCh38
NC_000001.10:g.228346406C>T , CM000663.1:g.228346406C>T	GRCh37
NC_000001.9:g.226413029C>T	NCBI36
NG_011838.1:g.13854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366714.3:c.947C>T MANE Select	ENSP00000355675.2:p.Pro316Leu
ENST00000366714.2:c.947C>T	ENSP00000355675.2:p.Pro316Leu
NM_020435.3:c.947C>T	NP_065168.2:p.Pro316Leu
NM_020435.4:c.947C>T MANE Select	NP_065168.2:p.Pro316Leu