Canonical Allele Identifier: CA2668842164

Gene: CLCN2 EIF2B5

Linked Data

• gnomAD v4: 3-184355415-CACGTGGTGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355416_184355425del , CM000665.2:g.184355416_184355425del	GRCh38
NC_000003.11:g.184073204_184073213del , CM000665.1:g.184073204_184073213del	GRCh37
NC_000003.10:g.185555898_185555907del	NCBI36
NG_016422.1:g.11179_11188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1275_1284del (CLCN2) MANE Select	ENSP00000265593.4:p.Asn425LysfsTer14
ENST00000475279.2:c.657_666del (CLCN2)
ENST00000636180.1:c.*251_*260del (CLCN2)	ENSP00000490374.1:n.*251_*260del
ENST00000636241.1:c.1166_1175del (CLCN2)
ENST00000636492.1:c.1158_1167del (CLCN2)	ENSP00000490313.1:p.Asn386LysfsTer14
ENST00000636658.1:c.536_545del (CLCN2)
ENST00000636661.1:c.*1465_*1474del (CLCN2)	ENSP00000490764.1:n.*1465_*1474del
ENST00000637392.1:n.2551_2560del (CLCN2)
ENST00000637538.1:c.581_590del (CLCN2)
ENST00000637909.1:c.1081_1090del (CLCN2)
ENST00000638134.1:c.1083_1092del (CLCN2)
ENST00000265593.8:c.1275_1284del (CLCN2)	ENSP00000265593.4:p.Asn425LysfsTer14
ENST00000344937.11:c.1275_1284del (CLCN2)	ENSP00000345056.7:p.Asn425LysfsTer14
ENST00000430397.5:c.218_227del (CLCN2)
ENST00000434054.6:c.1143_1152del (CLCN2)	ENSP00000400425.2:p.Asn381LysfsTer14
ENST00000444495.1:c.2106+210709_2106+210718del (EIF2B5)	ENSP00000409142.1:n.2106+210709_2106+210718del
ENST00000457512.1:c.1275_1284del (CLCN2)	ENSP00000391928.1:p.Asn425LysfsTer14
ENST00000475279.1:n.293_302del (CLCN2)
ENST00000485667.1:n.1282_1291del (CLCN2)
NM_001171087.2:c.1275_1284del (CLCN2)	NP_001164558.1:p.Asn425LysfsTer14
NM_001171088.2:c.1143_1152del (CLCN2)	NP_001164559.1:p.Asn381LysfsTer14
NM_001171089.2:c.1275_1284del (CLCN2)	NP_001164560.1:p.Asn425LysfsTer14
NM_004366.5:c.1275_1284del (CLCN2)	NP_004357.3:p.Asn425LysfsTer14
XM_006713489.1:c.1275_1284del (CLCN2)	XP_006713552.1:p.Asn425LysfsTer14
XM_006713490.1:c.117_126del (CLCN2)	XP_006713553.1:p.Asn39LysfsTer14
XM_011512401.1:c.1275_1284del (CLCN2)	XP_011510703.1:p.Asn425LysfsTer14
XM_011512402.1:c.1275_1284del (CLCN2)	XP_011510704.1:p.Asn425LysfsTer14
XM_006713490.2:c.117_126del (CLCN2)	XP_006713553.1:p.Asn39LysfsTer14
XR_001740001.1:n.1399_1408del (CLCN2)
XR_001740002.1:n.1399_1408del (CLCN2)
NM_004366.6:c.1275_1284del (CLCN2) MANE Select	NP_004357.3:p.Asn425LysfsTer14
NM_001171087.3:c.1275_1284del (CLCN2)	NP_001164558.1:p.Asn425LysfsTer14
NM_001171088.3:c.1143_1152del (CLCN2)	NP_001164559.1:p.Asn381LysfsTer14
NM_001171089.3:c.1275_1284del (CLCN2)	NP_001164560.1:p.Asn425LysfsTer14