Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355735G= , CM000665.2:g.184355735G=	GRCh38
NC_000003.11:g.184073523G= , CM000665.1:g.184073523G=	GRCh37
NC_000003.10:g.185556217G=	NCBI36
NG_016422.1:g.10869C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1129C= (CLCN2) MANE Select	ENSP00000265593.4:p.Leu377=
ENST00000475279.2:c.511C= (CLCN2)
ENST00000636180.1:c.*105C= (CLCN2)	ENSP00000490374.1:n.*105C=
ENST00000636241.1:c.1020C= (CLCN2)
ENST00000636492.1:c.1012C= (CLCN2)	ENSP00000490313.1:p.Leu338=
ENST00000636658.1:c.390C= (CLCN2)
ENST00000636661.1:c.*1319C= (CLCN2)	ENSP00000490764.1:n.*1319C=
ENST00000637392.1:n.2241C= (CLCN2)
ENST00000637538.1:c.435C= (CLCN2)
ENST00000637909.1:c.935C= (CLCN2)
ENST00000638134.1:c.937C= (CLCN2)
ENST00000265593.8:c.1129C= (CLCN2)	ENSP00000265593.4:p.Leu377=
ENST00000344937.11:c.1129C= (CLCN2)	ENSP00000345056.7:p.Leu377=
ENST00000430397.5:c.72C= (CLCN2)
ENST00000434054.6:c.997C= (CLCN2)	ENSP00000400425.2:p.Leu333=
ENST00000444495.1:c.2106+211028G= (EIF2B5)	ENSP00000409142.1:n.2106+211028G=
ENST00000457512.1:c.1129C= (CLCN2)	ENSP00000391928.1:p.Leu377=
ENST00000475279.1:n.147C= (CLCN2)
ENST00000485667.1:n.1136C= (CLCN2)
NM_001171087.2:c.1129C= (CLCN2)	NP_001164558.1:p.Leu377=
NM_001171088.2:c.997C= (CLCN2)	NP_001164559.1:p.Leu333=
NM_001171089.2:c.1129C= (CLCN2)	NP_001164560.1:p.Leu377=
NM_004366.5:c.1129C= (CLCN2)	NP_004357.3:p.Leu377=
XM_006713489.1:c.1129C= (CLCN2)	XP_006713552.1:p.Leu377=
XM_006713490.1:c.-30C= (CLCN2)	XP_006713553.1:n.-30C=
XM_011512401.1:c.1129C= (CLCN2)	XP_011510703.1:p.Leu377=
XM_011512402.1:c.1129C= (CLCN2)	XP_011510704.1:p.Leu377=
XM_006713490.2:c.-30C= (CLCN2)	XP_006713553.1:n.-30C=
XR_001740001.1:n.1253C= (CLCN2)
XR_001740002.1:n.1253C= (CLCN2)
NM_004366.6:c.1129C= (CLCN2) MANE Select	NP_004357.3:p.Leu377=
NM_001171087.3:c.1129C= (CLCN2)	NP_001164558.1:p.Leu377=
NM_001171088.3:c.997C= (CLCN2)	NP_001164559.1:p.Leu333=
NM_001171089.3:c.1129C= (CLCN2)	NP_001164560.1:p.Leu377=