Canonical Allele Identifier: CA216268

Gene: CLDN2 MORC4

Linked Data

• ClinVar Variation Id: 64495
• ClinVar RCV Id: RCV000054682
• dbSNP Id: rs387907423
• MyVariant Identifiers: chrX:g.106171651G>C (hg19) ; chrX:g.106928421G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106928421G>C , CM000685.2:g.106928421G>C	GRCh38
NC_000023.10:g.106171651G>C , CM000685.1:g.106171651G>C	GRCh37
NC_000023.9:g.106058307G>C	NCBI36
NG_016445.1:g.33258G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336803.2:c.193G>C (CLDN2) MANE Select	ENSP00000336571.1:p.Asp65His
ENST00000541806.6:c.193G>C (CLDN2)	ENSP00000441283.1:p.Asp65His
ENST00000336803.1:c.193G>C (CLDN2)	ENSP00000336571.1:p.Asp65His
ENST00000540876.1:c.193G>C (CLDN2)	ENSP00000443230.1:p.Asp65His
ENST00000541806.5:c.193G>C (CLDN2)	ENSP00000441283.1:p.Asp65His
ENST00000604604.1:c.111+64809C>G (MORC4)
NM_001171092.1:c.193G>C (CLDN2)	NP_001164563.1:p.Asp65His
NM_001171095.1:c.193G>C (CLDN2)	NP_001164566.1:p.Asp65His
NM_020384.3:c.193G>C (CLDN2)	NP_065117.1:p.Asp65His
NM_020384.4:c.193G>C (CLDN2) MANE Select	NP_065117.1:p.Asp65His
NM_001171095.2:c.193G>C (CLDN2)	NP_001164566.1:p.Asp65His