Canonical Allele Identifier: CA355452020
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184355400T>A , CM000665.2:g.184355400T>A GRCh38
NC_000003.11:g.184073188T>A , CM000665.1:g.184073188T>A GRCh37
NC_000003.10:g.185555882T>A NCBI36
NG_016422.1:g.11204A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265593.9:c.1300A>T (CLCN2) MANE Select ENSP00000265593.4:p.Thr434Ser
ENST00000475279.2:c.682A>T (CLCN2)
ENST00000636180.1:c.*276A>T (CLCN2) ENSP00000490374.1:n.*276A>T
ENST00000636241.1:c.1191A>T (CLCN2)
ENST00000636492.1:c.1183A>T (CLCN2) ENSP00000490313.1:p.Thr395Ser
ENST00000636658.1:c.561A>T (CLCN2)
ENST00000636661.1:c.*1490A>T (CLCN2) ENSP00000490764.1:n.*1490A>T
ENST00000637392.1:n.2576A>T (CLCN2)
ENST00000637538.1:c.606A>T (CLCN2)
ENST00000637909.1:c.1106A>T (CLCN2)
ENST00000638134.1:c.1108A>T (CLCN2)
ENST00000265593.8:c.1300A>T (CLCN2) ENSP00000265593.4:p.Thr434Ser
ENST00000344937.11:c.1300A>T (CLCN2) ENSP00000345056.7:p.Thr434Ser
ENST00000430397.5:c.243A>T (CLCN2)
ENST00000434054.6:c.1168A>T (CLCN2) ENSP00000400425.2:p.Thr390Ser
ENST00000444495.1:c.2106+210693T>A (EIF2B5) ENSP00000409142.1:n.2106+210693T>A
ENST00000457512.1:c.1300A>T (CLCN2) ENSP00000391928.1:p.Thr434Ser
ENST00000485667.1:n.1307A>T (CLCN2)
NM_001171087.2:c.1300A>T (CLCN2) NP_001164558.1:p.Thr434Ser
NM_001171088.2:c.1168A>T (CLCN2) NP_001164559.1:p.Thr390Ser
NM_001171089.2:c.1300A>T (CLCN2) NP_001164560.1:p.Thr434Ser
NM_004366.5:c.1300A>T (CLCN2) NP_004357.3:p.Thr434Ser
XM_006713489.1:c.1300A>T (CLCN2) XP_006713552.1:p.Thr434Ser
XM_006713490.1:c.142A>T (CLCN2) XP_006713553.1:p.Thr48Ser
XM_011512401.1:c.1300A>T (CLCN2) XP_011510703.1:p.Thr434Ser
XM_011512402.1:c.1300A>T (CLCN2) XP_011510704.1:p.Thr434Ser
XM_006713490.2:c.142A>T (CLCN2) XP_006713553.1:p.Thr48Ser
XR_001740001.1:n.1424A>T (CLCN2)
XR_001740002.1:n.1424A>T (CLCN2)
NM_004366.6:c.1300A>T (CLCN2) MANE Select NP_004357.3:p.Thr434Ser
NM_001171087.3:c.1300A>T (CLCN2) NP_001164558.1:p.Thr434Ser
NM_001171088.3:c.1168A>T (CLCN2) NP_001164559.1:p.Thr390Ser
NM_001171089.3:c.1300A>T (CLCN2) NP_001164560.1:p.Thr434Ser