Canonical Allele Identifier: CA1425984311
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184355415C= , CM000665.2:g.184355415C= GRCh38
NC_000003.11:g.184073203C= , CM000665.1:g.184073203C= GRCh37
NC_000003.10:g.185555897C= NCBI36
NG_016422.1:g.11189G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265593.9:c.1285G= (CLCN2) MANE Select ENSP00000265593.4:p.Ala429=
ENST00000475279.2:c.667G= (CLCN2)
ENST00000636180.1:c.*261G= (CLCN2) ENSP00000490374.1:n.*261G=
ENST00000636241.1:c.1176G= (CLCN2)
ENST00000636492.1:c.1168G= (CLCN2) ENSP00000490313.1:p.Ala390=
ENST00000636658.1:c.546G= (CLCN2)
ENST00000636661.1:c.*1475G= (CLCN2) ENSP00000490764.1:n.*1475G=
ENST00000637392.1:n.2561G= (CLCN2)
ENST00000637538.1:c.591G= (CLCN2)
ENST00000637909.1:c.1091G= (CLCN2)
ENST00000638134.1:c.1093G= (CLCN2)
ENST00000265593.8:c.1285G= (CLCN2) ENSP00000265593.4:p.Ala429=
ENST00000344937.11:c.1285G= (CLCN2) ENSP00000345056.7:p.Ala429=
ENST00000430397.5:c.228G= (CLCN2)
ENST00000434054.6:c.1153G= (CLCN2) ENSP00000400425.2:p.Ala385=
ENST00000444495.1:c.2106+210708C= (EIF2B5) ENSP00000409142.1:n.2106+210708C=
ENST00000457512.1:c.1285G= (CLCN2) ENSP00000391928.1:p.Ala429=
ENST00000475279.1:n.303G= (CLCN2)
ENST00000485667.1:n.1292G= (CLCN2)
NM_001171087.2:c.1285G= (CLCN2) NP_001164558.1:p.Ala429=
NM_001171088.2:c.1153G= (CLCN2) NP_001164559.1:p.Ala385=
NM_001171089.2:c.1285G= (CLCN2) NP_001164560.1:p.Ala429=
NM_004366.5:c.1285G= (CLCN2) NP_004357.3:p.Ala429=
XM_006713489.1:c.1285G= (CLCN2) XP_006713552.1:p.Ala429=
XM_006713490.1:c.127G= (CLCN2) XP_006713553.1:p.Ala43=
XM_011512401.1:c.1285G= (CLCN2) XP_011510703.1:p.Ala429=
XM_011512402.1:c.1285G= (CLCN2) XP_011510704.1:p.Ala429=
XM_006713490.2:c.127G= (CLCN2) XP_006713553.1:p.Ala43=
XR_001740001.1:n.1409G= (CLCN2)
XR_001740002.1:n.1409G= (CLCN2)
NM_004366.6:c.1285G= (CLCN2) MANE Select NP_004357.3:p.Ala429=
NM_001171087.3:c.1285G= (CLCN2) NP_001164558.1:p.Ala429=
NM_001171088.3:c.1153G= (CLCN2) NP_001164559.1:p.Ala385=
NM_001171089.3:c.1285G= (CLCN2) NP_001164560.1:p.Ala429=