Canonical Allele Identifier: CA1425984452

Gene: CLCN2 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355721_184355722delinsAG , CM000665.2:g.184355721_184355722delinsAG	GRCh38
NC_000003.11:g.184073509_184073510delinsAG , CM000665.1:g.184073509_184073510delinsAG	GRCh37
NC_000003.10:g.185556203_185556204delinsAG	NCBI36
NG_016422.1:g.10882_10883delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1142_1143delinsCT (CLCN2) MANE Select	ENSP00000265593.4:p.Pro381=
ENST00000475279.2:c.524_525delinsCT (CLCN2)
ENST00000636180.1:c.*118_*119delinsCT (CLCN2)	ENSP00000490374.1:n.*118_*119delinsCT
ENST00000636241.1:c.1033_1034delinsCT (CLCN2)
ENST00000636492.1:c.1025_1026delinsCT (CLCN2)	ENSP00000490313.1:p.Pro342=
ENST00000636658.1:c.403_404delinsCT (CLCN2)
ENST00000636661.1:c.*1332_*1333delinsCT (CLCN2)	ENSP00000490764.1:n.*1332_*1333delinsCT
ENST00000637392.1:n.2254_2255delinsCT (CLCN2)
ENST00000637538.1:c.448_449delinsCT (CLCN2)
ENST00000637909.1:c.948_949delinsCT (CLCN2)
ENST00000638134.1:c.950_951delinsCT (CLCN2)
ENST00000265593.8:c.1142_1143delinsCT (CLCN2)	ENSP00000265593.4:p.Pro381=
ENST00000344937.11:c.1142_1143delinsCT (CLCN2)	ENSP00000345056.7:p.Pro381=
ENST00000430397.5:c.85_86delinsCT (CLCN2)
ENST00000434054.6:c.1010_1011delinsCT (CLCN2)	ENSP00000400425.2:p.Pro337=
ENST00000444495.1:c.2106+211014_2106+211015delinsAG (EIF2B5)	ENSP00000409142.1:n.2106+211014_2106+211015delinsAG
ENST00000457512.1:c.1142_1143delinsCT (CLCN2)	ENSP00000391928.1:p.Pro381=
ENST00000475279.1:n.160_161delinsCT (CLCN2)
ENST00000485667.1:n.1149_1150delinsCT (CLCN2)
NM_001171087.2:c.1142_1143delinsCT (CLCN2)	NP_001164558.1:p.Pro381=
NM_001171088.2:c.1010_1011delinsCT (CLCN2)	NP_001164559.1:p.Pro337=
NM_001171089.2:c.1142_1143delinsCT (CLCN2)	NP_001164560.1:p.Pro381=
NM_004366.5:c.1142_1143delinsCT (CLCN2)	NP_004357.3:p.Pro381=
XM_006713489.1:c.1142_1143delinsCT (CLCN2)	XP_006713552.1:p.Pro381=
XM_006713490.1:c.-17_-16delinsCT (CLCN2)	XP_006713553.1:n.-17_-16delinsCT
XM_011512401.1:c.1142_1143delinsCT (CLCN2)	XP_011510703.1:p.Pro381=
XM_011512402.1:c.1142_1143delinsCT (CLCN2)	XP_011510704.1:p.Pro381=
XM_006713490.2:c.-17_-16delinsCT (CLCN2)	XP_006713553.1:n.-17_-16delinsCT
XR_001740001.1:n.1266_1267delinsCT (CLCN2)
XR_001740002.1:n.1266_1267delinsCT (CLCN2)
NM_004366.6:c.1142_1143delinsCT (CLCN2) MANE Select	NP_004357.3:p.Pro381=
NM_001171087.3:c.1142_1143delinsCT (CLCN2)	NP_001164558.1:p.Pro381=
NM_001171088.3:c.1010_1011delinsCT (CLCN2)	NP_001164559.1:p.Pro337=
NM_001171089.3:c.1142_1143delinsCT (CLCN2)	NP_001164560.1:p.Pro381=