Canonical Allele Identifier: CA333022608

Gene: CLDN2 MORC4

Linked Data

• ClinVar Variation Id: 1246131
• ClinVar RCV Id: RCV001654223
• dbSNP Id: rs72466477
• gnomAD v2: X-106171176-CAT-C
• gnomAD v3: X-106927946-CAT-C
• gnomAD v4: X-106927946-CAT-C
• MyVariant Identifiers: chrX:g.106171177_106171178del (hg19) ; chrX:g.106927947_106927948del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106927947_106927948del , CM000685.2:g.106927947_106927948del	GRCh38
NC_000023.10:g.106171177_106171178del , CM000685.1:g.106171177_106171178del	GRCh37
NC_000023.9:g.106057833_106057834del	NCBI36
NG_016445.1:g.32784_32785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336803.2:c.-178-104_-178-103del (CLDN2) MANE Select	ENSP00000336571.1:n.-178-104_-178-103del
ENST00000541806.6:c.-178-104_-178-103del (CLDN2)	ENSP00000441283.1:n.-178-104_-178-103del
ENST00000336803.1:c.-178-104_-178-103del (CLDN2)	ENSP00000336571.1:n.-178-104_-178-103del
ENST00000540876.1:c.-178-104_-178-103del (CLDN2)	ENSP00000443230.1:n.-178-104_-178-103del
ENST00000541806.5:c.-178-104_-178-103del (CLDN2)	ENSP00000441283.1:n.-178-104_-178-103del
ENST00000604604.1:c.111+65282_111+65283del (MORC4)
NM_001171092.1:c.-178-104_-178-103del (CLDN2)	NP_001164563.1:n.-178-104_-178-103del
NM_001171095.1:c.-178-104_-178-103del (CLDN2)	NP_001164566.1:n.-178-104_-178-103del
NM_020384.3:c.-178-104_-178-103del (CLDN2)	NP_065117.1:n.-178-104_-178-103del
NM_020384.4:c.-178-104_-178-103del (CLDN2) MANE Select	NP_065117.1:n.-178-104_-178-103del
NM_001171095.2:c.-178-104_-178-103del (CLDN2)	NP_001164566.1:n.-178-104_-178-103del