Canonical Allele Identifier: CA2759717456
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184355726_184355727dup , CM000665.2:g.184355726_184355727dup GRCh38
NC_000003.11:g.184073514_184073515dup , CM000665.1:g.184073514_184073515dup GRCh37
NC_000003.10:g.185556208_185556209dup NCBI36
NG_016422.1:g.10881_10882dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265593.9:c.1141_1142dup (CLCN2) MANE Select ENSP00000265593.4:p.Gly382LeufsTer?
ENST00000475279.2:c.523_524dup (CLCN2)
ENST00000636180.1:c.*117_*118dup (CLCN2) ENSP00000490374.1:n.*117_*118dup
ENST00000636241.1:c.1032_1033dup (CLCN2)
ENST00000636492.1:c.1024_1025dup (CLCN2) ENSP00000490313.1:p.Gly343LeufsTer?
ENST00000636658.1:c.402_403dup (CLCN2)
ENST00000636661.1:c.*1331_*1332dup (CLCN2) ENSP00000490764.1:n.*1331_*1332dup
ENST00000637392.1:n.2253_2254dup (CLCN2)
ENST00000637538.1:c.447_448dup (CLCN2)
ENST00000637909.1:c.947_948dup (CLCN2)
ENST00000638134.1:c.949_950dup (CLCN2)
ENST00000265593.8:c.1141_1142dup (CLCN2) ENSP00000265593.4:p.Gly382LeufsTer?
ENST00000344937.11:c.1141_1142dup (CLCN2) ENSP00000345056.7:p.Gly382LeufsTer?
ENST00000430397.5:c.84_85dup (CLCN2)
ENST00000434054.6:c.1009_1010dup (CLCN2) ENSP00000400425.2:p.Gly338LeufsTer?
ENST00000444495.1:c.2106+211019_2106+211020dup (EIF2B5) ENSP00000409142.1:n.2106+211019_2106+211020dup
ENST00000457512.1:c.1141_1142dup (CLCN2) ENSP00000391928.1:p.Gly382LeufsTer?
ENST00000475279.1:n.159_160dup (CLCN2)
ENST00000485667.1:n.1148_1149dup (CLCN2)
NM_001171087.2:c.1141_1142dup (CLCN2) NP_001164558.1:p.Gly382LeufsTer?
NM_001171088.2:c.1009_1010dup (CLCN2) NP_001164559.1:p.Gly338LeufsTer?
NM_001171089.2:c.1141_1142dup (CLCN2) NP_001164560.1:p.Gly382LeufsTer?
NM_004366.5:c.1141_1142dup (CLCN2) NP_004357.3:p.Gly382LeufsTer?
XM_006713489.1:c.1141_1142dup (CLCN2) XP_006713552.1:p.Gly382LeufsTer?
XM_006713490.1:c.-18_-17dup (CLCN2) XP_006713553.1:n.-18_-17dup
XM_011512401.1:c.1141_1142dup (CLCN2) XP_011510703.1:p.Gly382LeufsTer?
XM_011512402.1:c.1141_1142dup (CLCN2) XP_011510704.1:p.Gly382LeufsTer?
XM_006713490.2:c.-18_-17dup (CLCN2) XP_006713553.1:n.-18_-17dup
XR_001740001.1:n.1265_1266dup (CLCN2)
XR_001740002.1:n.1265_1266dup (CLCN2)
NM_004366.6:c.1141_1142dup (CLCN2) MANE Select NP_004357.3:p.Gly382LeufsTer?
NM_001171087.3:c.1141_1142dup (CLCN2) NP_001164558.1:p.Gly382LeufsTer?
NM_001171088.3:c.1009_1010dup (CLCN2) NP_001164559.1:p.Gly338LeufsTer?
NM_001171089.3:c.1141_1142dup (CLCN2) NP_001164560.1:p.Gly382LeufsTer?