Canonical Allele Identifier: CA1425982648

Gene: CLCN2 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184352084G= , CM000665.2:g.184352084G=	GRCh38
NC_000003.11:g.184069872G= , CM000665.1:g.184069872G=	GRCh37
NC_000003.10:g.185552566G=	NCBI36
NG_016422.1:g.14520C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.2344C= (CLCN2) MANE Select	ENSP00000265593.4:p.Pro782=
ENST00000636180.1:c.*1242C= (CLCN2)	ENSP00000490374.1:n.*1242C=
ENST00000636661.1:c.*2654C= (CLCN2)	ENSP00000490764.1:n.*2654C=
ENST00000637392.1:n.3886C= (CLCN2)
ENST00000637909.1:c.2150C= (CLCN2)
ENST00000265593.8:c.2344C= (CLCN2)	ENSP00000265593.4:p.Pro782=
ENST00000344937.11:c.2293C= (CLCN2)	ENSP00000345056.7:p.Pro765=
ENST00000430397.5:c.1177+209C= (CLCN2)
ENST00000434054.6:c.2212C= (CLCN2)	ENSP00000400425.2:p.Pro738=
ENST00000444495.1:c.2106+207377G= (EIF2B5)	ENSP00000409142.1:n.2106+207377G=
ENST00000457512.1:c.2344C= (CLCN2)	ENSP00000391928.1:p.Pro782=
NM_001171087.2:c.2293C= (CLCN2)	NP_001164558.1:p.Pro765=
NM_001171088.2:c.2212C= (CLCN2)	NP_001164559.1:p.Pro738=
NM_001171089.2:c.2344C= (CLCN2)	NP_001164560.1:p.Pro782=
NM_004366.5:c.2344C= (CLCN2)	NP_004357.3:p.Pro782=
XM_006713489.1:c.2310+209C= (CLCN2)	XP_006713552.1:n.2310+209C=
XM_006713490.1:c.1186C= (CLCN2)	XP_006713553.1:p.Pro396=
XM_011512401.1:c.2344C= (CLCN2)	XP_011510703.1:p.Pro782=
XM_006713490.2:c.1186C= (CLCN2)	XP_006713553.1:p.Pro396=
XR_001740001.1:n.2524C= (CLCN2)
XR_001740002.1:n.2490+209C= (CLCN2)
NM_004366.6:c.2344C= (CLCN2) MANE Select	NP_004357.3:p.Pro782=
NM_001171087.3:c.2293C= (CLCN2)	NP_001164558.1:p.Pro765=
NM_001171088.3:c.2212C= (CLCN2)	NP_001164559.1:p.Pro738=
NM_001171089.3:c.2344C= (CLCN2)	NP_001164560.1:p.Pro782=