Canonical Allele Identifier: CA2668842297

Gene: CLCN2 EIF2B5

Linked Data

• gnomAD v4: 3-184355457-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355462_184355464del , CM000665.2:g.184355462_184355464del	GRCh38
NC_000003.11:g.184073250_184073252del , CM000665.1:g.184073250_184073252del	GRCh37
NC_000003.10:g.185555944_185555946del	NCBI36
NG_016422.1:g.11144_11146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1240_1242del (CLCN2) MANE Select	ENSP00000265593.4:p.Glu414del
ENST00000475279.2:c.622_624del (CLCN2)
ENST00000636180.1:c.*216_*218del (CLCN2)	ENSP00000490374.1:n.*216_*218del
ENST00000636241.1:c.1131_1133del (CLCN2)
ENST00000636492.1:c.1123_1125del (CLCN2)	ENSP00000490313.1:p.Glu375del
ENST00000636658.1:c.501_503del (CLCN2)
ENST00000636661.1:c.*1430_*1432del (CLCN2)	ENSP00000490764.1:n.*1430_*1432del
ENST00000637392.1:n.2516_2518del (CLCN2)
ENST00000637538.1:c.546_548del (CLCN2)
ENST00000637909.1:c.1046_1048del (CLCN2)
ENST00000638134.1:c.1048_1050del (CLCN2)
ENST00000265593.8:c.1240_1242del (CLCN2)	ENSP00000265593.4:p.Glu414del
ENST00000344937.11:c.1240_1242del (CLCN2)	ENSP00000345056.7:p.Glu414del
ENST00000430397.5:c.183_185del (CLCN2)
ENST00000434054.6:c.1108_1110del (CLCN2)	ENSP00000400425.2:p.Glu370del
ENST00000444495.1:c.2106+210755_2106+210757del (EIF2B5)	ENSP00000409142.1:n.2106+210755_2106+210757del
ENST00000457512.1:c.1240_1242del (CLCN2)	ENSP00000391928.1:p.Glu414del
ENST00000475279.1:n.258_260del (CLCN2)
ENST00000485667.1:n.1247_1249del (CLCN2)
NM_001171087.2:c.1240_1242del (CLCN2)	NP_001164558.1:p.Glu414del
NM_001171088.2:c.1108_1110del (CLCN2)	NP_001164559.1:p.Glu370del
NM_001171089.2:c.1240_1242del (CLCN2)	NP_001164560.1:p.Glu414del
NM_004366.5:c.1240_1242del (CLCN2)	NP_004357.3:p.Glu414del
XM_006713489.1:c.1240_1242del (CLCN2)	XP_006713552.1:p.Glu414del
XM_006713490.1:c.82_84del (CLCN2)	XP_006713553.1:p.Glu28del
XM_011512401.1:c.1240_1242del (CLCN2)	XP_011510703.1:p.Glu414del
XM_011512402.1:c.1240_1242del (CLCN2)	XP_011510704.1:p.Glu414del
XM_006713490.2:c.82_84del (CLCN2)	XP_006713553.1:p.Glu28del
XR_001740001.1:n.1364_1366del (CLCN2)
XR_001740002.1:n.1364_1366del (CLCN2)
NM_004366.6:c.1240_1242del (CLCN2) MANE Select	NP_004357.3:p.Glu414del
NM_001171087.3:c.1240_1242del (CLCN2)	NP_001164558.1:p.Glu414del
NM_001171088.3:c.1108_1110del (CLCN2)	NP_001164559.1:p.Glu370del
NM_001171089.3:c.1240_1242del (CLCN2)	NP_001164560.1:p.Glu414del