Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355428C= , CM000665.2:g.184355428C=	GRCh38
NC_000003.11:g.184073216C= , CM000665.1:g.184073216C=	GRCh37
NC_000003.10:g.185555910C=	NCBI36
NG_016422.1:g.11176G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1272G= (CLCN2) MANE Select	ENSP00000265593.4:p.Trp424=
ENST00000475279.2:c.654G= (CLCN2)
ENST00000636180.1:c.*248G= (CLCN2)	ENSP00000490374.1:n.*248G=
ENST00000636241.1:c.1163G= (CLCN2)
ENST00000636492.1:c.1155G= (CLCN2)	ENSP00000490313.1:p.Trp385=
ENST00000636658.1:c.533G= (CLCN2)
ENST00000636661.1:c.*1462G= (CLCN2)	ENSP00000490764.1:n.*1462G=
ENST00000637392.1:n.2548G= (CLCN2)
ENST00000637538.1:c.578G= (CLCN2)
ENST00000637909.1:c.1078G= (CLCN2)
ENST00000638134.1:c.1080G= (CLCN2)
ENST00000265593.8:c.1272G= (CLCN2)	ENSP00000265593.4:p.Trp424=
ENST00000344937.11:c.1272G= (CLCN2)	ENSP00000345056.7:p.Trp424=
ENST00000430397.5:c.215G= (CLCN2)
ENST00000434054.6:c.1140G= (CLCN2)	ENSP00000400425.2:p.Trp380=
ENST00000444495.1:c.2106+210721C= (EIF2B5)	ENSP00000409142.1:n.2106+210721C=
ENST00000457512.1:c.1272G= (CLCN2)	ENSP00000391928.1:p.Trp424=
ENST00000475279.1:n.290G= (CLCN2)
ENST00000485667.1:n.1279G= (CLCN2)
NM_001171087.2:c.1272G= (CLCN2)	NP_001164558.1:p.Trp424=
NM_001171088.2:c.1140G= (CLCN2)	NP_001164559.1:p.Trp380=
NM_001171089.2:c.1272G= (CLCN2)	NP_001164560.1:p.Trp424=
NM_004366.5:c.1272G= (CLCN2)	NP_004357.3:p.Trp424=
XM_006713489.1:c.1272G= (CLCN2)	XP_006713552.1:p.Trp424=
XM_006713490.1:c.114G= (CLCN2)	XP_006713553.1:p.Trp38=
XM_011512401.1:c.1272G= (CLCN2)	XP_011510703.1:p.Trp424=
XM_011512402.1:c.1272G= (CLCN2)	XP_011510704.1:p.Trp424=
XM_006713490.2:c.114G= (CLCN2)	XP_006713553.1:p.Trp38=
XR_001740001.1:n.1396G= (CLCN2)
XR_001740002.1:n.1396G= (CLCN2)
NM_004366.6:c.1272G= (CLCN2) MANE Select	NP_004357.3:p.Trp424=
NM_001171087.3:c.1272G= (CLCN2)	NP_001164558.1:p.Trp424=
NM_001171088.3:c.1140G= (CLCN2)	NP_001164559.1:p.Trp380=
NM_001171089.3:c.1272G= (CLCN2)	NP_001164560.1:p.Trp424=