Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355737G= , CM000665.2:g.184355737G=	GRCh38
NC_000003.11:g.184073525G= , CM000665.1:g.184073525G=	GRCh37
NC_000003.10:g.185556219G=	NCBI36
NG_016422.1:g.10867C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1127C= (CLCN2) MANE Select	ENSP00000265593.4:p.Thr376=
ENST00000475279.2:c.509C= (CLCN2)
ENST00000636180.1:c.*103C= (CLCN2)	ENSP00000490374.1:n.*103C=
ENST00000636241.1:c.1018C= (CLCN2)
ENST00000636492.1:c.1010C= (CLCN2)	ENSP00000490313.1:p.Thr337=
ENST00000636658.1:c.388C= (CLCN2)
ENST00000636661.1:c.*1317C= (CLCN2)	ENSP00000490764.1:n.*1317C=
ENST00000637392.1:n.2239C= (CLCN2)
ENST00000637538.1:c.433C= (CLCN2)
ENST00000637909.1:c.933C= (CLCN2)
ENST00000638134.1:c.935C= (CLCN2)
ENST00000265593.8:c.1127C= (CLCN2)	ENSP00000265593.4:p.Thr376=
ENST00000344937.11:c.1127C= (CLCN2)	ENSP00000345056.7:p.Thr376=
ENST00000430397.5:c.70C= (CLCN2)
ENST00000434054.6:c.995C= (CLCN2)	ENSP00000400425.2:p.Thr332=
ENST00000444495.1:c.2106+211030G= (EIF2B5)	ENSP00000409142.1:n.2106+211030G=
ENST00000457512.1:c.1127C= (CLCN2)	ENSP00000391928.1:p.Thr376=
ENST00000475279.1:n.145C= (CLCN2)
ENST00000485667.1:n.1134C= (CLCN2)
NM_001171087.2:c.1127C= (CLCN2)	NP_001164558.1:p.Thr376=
NM_001171088.2:c.995C= (CLCN2)	NP_001164559.1:p.Thr332=
NM_001171089.2:c.1127C= (CLCN2)	NP_001164560.1:p.Thr376=
NM_004366.5:c.1127C= (CLCN2)	NP_004357.3:p.Thr376=
XM_006713489.1:c.1127C= (CLCN2)	XP_006713552.1:p.Thr376=
XM_006713490.1:c.-32C= (CLCN2)	XP_006713553.1:n.-32C=
XM_011512401.1:c.1127C= (CLCN2)	XP_011510703.1:p.Thr376=
XM_011512402.1:c.1127C= (CLCN2)	XP_011510704.1:p.Thr376=
XM_006713490.2:c.-32C= (CLCN2)	XP_006713553.1:n.-32C=
XR_001740001.1:n.1251C= (CLCN2)
XR_001740002.1:n.1251C= (CLCN2)
NM_004366.6:c.1127C= (CLCN2) MANE Select	NP_004357.3:p.Thr376=
NM_001171087.3:c.1127C= (CLCN2)	NP_001164558.1:p.Thr376=
NM_001171088.3:c.995C= (CLCN2)	NP_001164559.1:p.Thr332=
NM_001171089.3:c.1127C= (CLCN2)	NP_001164560.1:p.Thr376=