Canonical Allele Identifier: CA347650

Gene: CLCN2 EIF2B5

Linked Data

• ClinVar Variation Id: 217783
• ClinVar RCV Id: RCV000201832
• MyVariant Identifiers: chr3:g.184075622_184078027del (hg19) ; chr3:g.184357833_184360238del (hg38)
• PubMed: PMID:23707145 ; PMID:26539602

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184357834_184360239del , CM000665.2:g.184357834_184360239del	GRCh38
NC_000003.11:g.184075622_184078027del , CM000665.1:g.184075622_184078027del	GRCh37
NC_000003.10:g.185558316_185560721del	NCBI36
NG_016422.1:g.6366_8771del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265593.9:c.64-1107_639del (CLCN2)
ENST00000636180.1:c.64-1107_615+129del (CLCN2)
ENST00000636241.1:c.33-1107_584+129del (CLCN2)
ENST00000636661.1:c.64-1107_615+129del (CLCN2)
ENST00000637392.1:n.40-1107_591+129del (CLCN2)
ENST00000638134.1:c.29-1107_580+129del (CLCN2)
ENST00000265593.8:c.64-1107_639del (CLCN2)
ENST00000344937.11:c.64-1107_639del (CLCN2)
ENST00000434054.6:c.64-1107_507del (CLCN2)
ENST00000444495.1:c.2106+213127_2106+215532del (EIF2B5)	ENSP00000409142.1:n.2106+213127_2106+2155...
ENST00000457512.1:c.64-1107_639del (CLCN2)
ENST00000485667.1:n.71-1107_646del (CLCN2)
NM_001171087.2:c.64-1107_639del (CLCN2)
NM_001171088.2:c.64-1107_507del (CLCN2)
NM_001171089.2:c.64-1107_639del (CLCN2)
NM_004366.5:c.64-1107_639del (CLCN2)
XM_006713489.1:c.64-1107_639del (CLCN2)
XM_011512401.1:c.64-1107_639del (CLCN2)
XM_011512402.1:c.64-1107_639del (CLCN2)
XR_001740001.1:n.188-1107_763del (CLCN2)
XR_001740002.1:n.188-1107_763del (CLCN2)
NM_004366.6:c.64-1107_639del (CLCN2)
NM_001171087.3:c.64-1107_639del (CLCN2)
NM_001171088.3:c.64-1107_507del (CLCN2)
NM_001171089.3:c.64-1107_639del (CLCN2)