Canonical Allele Identifier: CA88896013
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1432162
ClinVar RCV Id: RCV001981944
dbSNP Id: rs758705606

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184355409C>T , CM000665.2:g.184355409C>T GRCh38
NC_000003.11:g.184073197C>T , CM000665.1:g.184073197C>T GRCh37
NC_000003.10:g.185555891C>T NCBI36
NG_016422.1:g.11195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265593.9:c.1291G>A (CLCN2) MANE Select ENSP00000265593.4:p.Val431Ile
ENST00000475279.2:c.673G>A (CLCN2)
ENST00000636180.1:c.*267G>A (CLCN2) ENSP00000490374.1:n.*267G>A
ENST00000636241.1:c.1182G>A (CLCN2)
ENST00000636492.1:c.1174G>A (CLCN2) ENSP00000490313.1:p.Val392Ile
ENST00000636658.1:c.552G>A (CLCN2)
ENST00000636661.1:c.*1481G>A (CLCN2) ENSP00000490764.1:n.*1481G>A
ENST00000637392.1:n.2567G>A (CLCN2)
ENST00000637538.1:c.597G>A (CLCN2)
ENST00000637909.1:c.1097G>A (CLCN2)
ENST00000638134.1:c.1099G>A (CLCN2)
ENST00000265593.8:c.1291G>A (CLCN2) ENSP00000265593.4:p.Val431Ile
ENST00000344937.11:c.1291G>A (CLCN2) ENSP00000345056.7:p.Val431Ile
ENST00000430397.5:c.234G>A (CLCN2)
ENST00000434054.6:c.1159G>A (CLCN2) ENSP00000400425.2:p.Val387Ile
ENST00000444495.1:c.2106+210702C>T (EIF2B5) ENSP00000409142.1:n.2106+210702C>T
ENST00000457512.1:c.1291G>A (CLCN2) ENSP00000391928.1:p.Val431Ile
ENST00000475279.1:n.309G>A (CLCN2)
ENST00000485667.1:n.1298G>A (CLCN2)
NM_001171087.2:c.1291G>A (CLCN2) NP_001164558.1:p.Val431Ile
NM_001171088.2:c.1159G>A (CLCN2) NP_001164559.1:p.Val387Ile
NM_001171089.2:c.1291G>A (CLCN2) NP_001164560.1:p.Val431Ile
NM_004366.5:c.1291G>A (CLCN2) NP_004357.3:p.Val431Ile
XM_006713489.1:c.1291G>A (CLCN2) XP_006713552.1:p.Val431Ile
XM_006713490.1:c.133G>A (CLCN2) XP_006713553.1:p.Val45Ile
XM_011512401.1:c.1291G>A (CLCN2) XP_011510703.1:p.Val431Ile
XM_011512402.1:c.1291G>A (CLCN2) XP_011510704.1:p.Val431Ile
XM_006713490.2:c.133G>A (CLCN2) XP_006713553.1:p.Val45Ile
XR_001740001.1:n.1415G>A (CLCN2)
XR_001740002.1:n.1415G>A (CLCN2)
NM_004366.6:c.1291G>A (CLCN2) MANE Select NP_004357.3:p.Val431Ile
NM_001171087.3:c.1291G>A (CLCN2) NP_001164558.1:p.Val431Ile
NM_001171088.3:c.1159G>A (CLCN2) NP_001164559.1:p.Val387Ile
NM_001171089.3:c.1291G>A (CLCN2) NP_001164560.1:p.Val431Ile