Canonical Allele Identifier: CA345096870

Gene: GJC2

Linked Data

• ClinVar Variation Id: 520880
• ClinVar RCV Id: RCV000623747 ; RCV002263835
• dbSNP Id: rs1553262430
• gnomAD v4: 1-228157841-T-C
• MyVariant Identifiers: chr1:g.228345542T>C (hg19) ; chr1:g.228157841T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228157841T>C , CM000663.2:g.228157841T>C	GRCh38
NC_000001.10:g.228345542T>C , CM000663.1:g.228345542T>C	GRCh37
NC_000001.9:g.226412165T>C	NCBI36
NG_011838.1:g.12990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366714.3:c.83T>C MANE Select	ENSP00000355675.2:p.Leu28Pro
ENST00000366714.2:c.83T>C	ENSP00000355675.2:p.Leu28Pro
NM_020435.3:c.83T>C	NP_065168.2:p.Leu28Pro
NM_020435.4:c.83T>C MANE Select	NP_065168.2:p.Leu28Pro