Canonical Allele Identifier: CA1425984318
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184355441G= , CM000665.2:g.184355441G= GRCh38
NC_000003.11:g.184073229G= , CM000665.1:g.184073229G= GRCh37
NC_000003.10:g.185555923G= NCBI36
NG_016422.1:g.11163C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265593.9:c.1259C= (CLCN2) MANE Select ENSP00000265593.4:p.Thr420=
ENST00000475279.2:c.641C= (CLCN2)
ENST00000636180.1:c.*235C= (CLCN2) ENSP00000490374.1:n.*235C=
ENST00000636241.1:c.1150C= (CLCN2)
ENST00000636492.1:c.1142C= (CLCN2) ENSP00000490313.1:p.Thr381=
ENST00000636658.1:c.520C= (CLCN2)
ENST00000636661.1:c.*1449C= (CLCN2) ENSP00000490764.1:n.*1449C=
ENST00000637392.1:n.2535C= (CLCN2)
ENST00000637538.1:c.565C= (CLCN2)
ENST00000637909.1:c.1065C= (CLCN2)
ENST00000638134.1:c.1067C= (CLCN2)
ENST00000265593.8:c.1259C= (CLCN2) ENSP00000265593.4:p.Thr420=
ENST00000344937.11:c.1259C= (CLCN2) ENSP00000345056.7:p.Thr420=
ENST00000430397.5:c.202C= (CLCN2)
ENST00000434054.6:c.1127C= (CLCN2) ENSP00000400425.2:p.Thr376=
ENST00000444495.1:c.2106+210734G= (EIF2B5) ENSP00000409142.1:n.2106+210734G=
ENST00000457512.1:c.1259C= (CLCN2) ENSP00000391928.1:p.Thr420=
ENST00000475279.1:n.277C= (CLCN2)
ENST00000485667.1:n.1266C= (CLCN2)
NM_001171087.2:c.1259C= (CLCN2) NP_001164558.1:p.Thr420=
NM_001171088.2:c.1127C= (CLCN2) NP_001164559.1:p.Thr376=
NM_001171089.2:c.1259C= (CLCN2) NP_001164560.1:p.Thr420=
NM_004366.5:c.1259C= (CLCN2) NP_004357.3:p.Thr420=
XM_006713489.1:c.1259C= (CLCN2) XP_006713552.1:p.Thr420=
XM_006713490.1:c.101C= (CLCN2) XP_006713553.1:p.Thr34=
XM_011512401.1:c.1259C= (CLCN2) XP_011510703.1:p.Thr420=
XM_011512402.1:c.1259C= (CLCN2) XP_011510704.1:p.Thr420=
XM_006713490.2:c.101C= (CLCN2) XP_006713553.1:p.Thr34=
XR_001740001.1:n.1383C= (CLCN2)
XR_001740002.1:n.1383C= (CLCN2)
NM_004366.6:c.1259C= (CLCN2) MANE Select NP_004357.3:p.Thr420=
NM_001171087.3:c.1259C= (CLCN2) NP_001164558.1:p.Thr420=
NM_001171088.3:c.1127C= (CLCN2) NP_001164559.1:p.Thr376=
NM_001171089.3:c.1259C= (CLCN2) NP_001164560.1:p.Thr420=