Canonical Allele Identifier: CA347612
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

ClinVar Variation Id: 217775
dbSNP Id: rs115961753

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184353341C>T , CM000665.2:g.184353341C>T GRCh38
NC_000003.11:g.184071129C>T , CM000665.1:g.184071129C>T GRCh37
NC_000003.10:g.185553823C>T NCBI36
NG_016422.1:g.13263G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265593.9:c.1937G>A (CLCN2) MANE Select ENSP00000265593.4:p.Arg646Gln
ENST00000636180.1:c.*835G>A (CLCN2) ENSP00000490374.1:n.*835G>A
ENST00000636241.1:c.1991G>A (CLCN2)
ENST00000636661.1:c.*2247G>A (CLCN2) ENSP00000490764.1:n.*2247G>A
ENST00000637258.1:n.355G>A (CLCN2)
ENST00000637392.1:n.3479G>A (CLCN2)
ENST00000637538.1:c.1173G>A (CLCN2)
ENST00000637909.1:c.1743G>A (CLCN2)
ENST00000265593.8:c.1937G>A (CLCN2) ENSP00000265593.4:p.Arg646Gln
ENST00000344937.11:c.1886G>A (CLCN2) ENSP00000345056.7:p.Arg629Gln
ENST00000430397.5:c.804G>A (CLCN2)
ENST00000434054.6:c.1805G>A (CLCN2) ENSP00000400425.2:p.Arg602Gln
ENST00000444495.1:c.2106+208634C>T (EIF2B5) ENSP00000409142.1:n.2106+208634C>T
ENST00000457512.1:c.1937G>A (CLCN2) ENSP00000391928.1:p.Arg646Gln
NM_001171087.2:c.1886G>A (CLCN2) NP_001164558.1:p.Arg629Gln
NM_001171088.2:c.1805G>A (CLCN2) NP_001164559.1:p.Arg602Gln
NM_001171089.2:c.1937G>A (CLCN2) NP_001164560.1:p.Arg646Gln
NM_004366.5:c.1937G>A (CLCN2) NP_004357.3:p.Arg646Gln
XM_006713489.1:c.1937G>A (CLCN2) XP_006713552.1:p.Arg646Gln
XM_006713490.1:c.779G>A (CLCN2) XP_006713553.1:p.Arg260Gln
XM_011512401.1:c.1937G>A (CLCN2) XP_011510703.1:p.Arg646Gln
XM_006713490.2:c.779G>A (CLCN2) XP_006713553.1:p.Arg260Gln
XR_001740001.1:n.2117G>A (CLCN2)
XR_001740002.1:n.2117G>A (CLCN2)
NM_004366.6:c.1937G>A (CLCN2) MANE Select NP_004357.3:p.Arg646Gln
NM_001171087.3:c.1886G>A (CLCN2) NP_001164558.1:p.Arg629Gln
NM_001171088.3:c.1805G>A (CLCN2) NP_001164559.1:p.Arg602Gln
NM_001171089.3:c.1937G>A (CLCN2) NP_001164560.1:p.Arg646Gln