Canonical Allele Identifier: CA1425984356
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184355529G= , CM000665.2:g.184355529G= GRCh38
NC_000003.11:g.184073317G= , CM000665.1:g.184073317G= GRCh37
NC_000003.10:g.185556011G= NCBI36
NG_016422.1:g.11075C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265593.9:c.1171C= (CLCN2) MANE Select ENSP00000265593.4:p.Leu391=
ENST00000475279.2:c.553C= (CLCN2)
ENST00000636180.1:c.*147C= (CLCN2) ENSP00000490374.1:n.*147C=
ENST00000636241.1:c.1062C= (CLCN2)
ENST00000636492.1:c.1054C= (CLCN2) ENSP00000490313.1:p.Leu352=
ENST00000636658.1:c.432C= (CLCN2)
ENST00000636661.1:c.*1361C= (CLCN2) ENSP00000490764.1:n.*1361C=
ENST00000637392.1:n.2447C= (CLCN2)
ENST00000637538.1:c.477C= (CLCN2)
ENST00000637909.1:c.977C= (CLCN2)
ENST00000638134.1:c.979C= (CLCN2)
ENST00000265593.8:c.1171C= (CLCN2) ENSP00000265593.4:p.Leu391=
ENST00000344937.11:c.1171C= (CLCN2) ENSP00000345056.7:p.Leu391=
ENST00000430397.5:c.114C= (CLCN2)
ENST00000434054.6:c.1039C= (CLCN2) ENSP00000400425.2:p.Leu347=
ENST00000444495.1:c.2106+210822G= (EIF2B5) ENSP00000409142.1:n.2106+210822G=
ENST00000457512.1:c.1171C= (CLCN2) ENSP00000391928.1:p.Leu391=
ENST00000475279.1:n.189C= (CLCN2)
ENST00000485667.1:n.1178C= (CLCN2)
NM_001171087.2:c.1171C= (CLCN2) NP_001164558.1:p.Leu391=
NM_001171088.2:c.1039C= (CLCN2) NP_001164559.1:p.Leu347=
NM_001171089.2:c.1171C= (CLCN2) NP_001164560.1:p.Leu391=
NM_004366.5:c.1171C= (CLCN2) NP_004357.3:p.Leu391=
XM_006713489.1:c.1171C= (CLCN2) XP_006713552.1:p.Leu391=
XM_006713490.1:c.13C= (CLCN2) XP_006713553.1:p.Leu5=
XM_011512401.1:c.1171C= (CLCN2) XP_011510703.1:p.Leu391=
XM_011512402.1:c.1171C= (CLCN2) XP_011510704.1:p.Leu391=
XM_006713490.2:c.13C= (CLCN2) XP_006713553.1:p.Leu5=
XR_001740001.1:n.1295C= (CLCN2)
XR_001740002.1:n.1295C= (CLCN2)
NM_004366.6:c.1171C= (CLCN2) MANE Select NP_004357.3:p.Leu391=
NM_001171087.3:c.1171C= (CLCN2) NP_001164558.1:p.Leu391=
NM_001171088.3:c.1039C= (CLCN2) NP_001164559.1:p.Leu347=
NM_001171089.3:c.1171C= (CLCN2) NP_001164560.1:p.Leu391=