Canonical Allele Identifier: CA347614

Gene: CLCN2 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184354643C>T , CM000665.2:g.184354643C>T	GRCh38
NC_000003.11:g.184072431C>T , CM000665.1:g.184072431C>T	GRCh37
NC_000003.10:g.185555125C>T	NCBI36
NG_016422.1:g.11961G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004366.6:c.1412G>A (CLCN2) MANE Select	NP_004357.3:p.Arg471His
ENST00000265593.9:c.1412G>A (CLCN2) MANE Select	ENSP00000265593.4:p.Arg471His
NM_001171087.2:c.1397-36G>A (CLCN2)	NP_001164558.1:n.1397-36G>A
NM_001171087.3:c.1397-36G>A (CLCN2)	NP_001164558.1:n.1397-36G>A
NM_001171088.2:c.1280G>A (CLCN2)	NP_001164559.1:p.Arg427His
NM_001171088.3:c.1280G>A (CLCN2)	NP_001164559.1:p.Arg427His
NM_001171089.2:c.1412G>A (CLCN2)	NP_001164560.1:p.Arg471His
NM_001171089.3:c.1412G>A (CLCN2)	NP_001164560.1:p.Arg471His
NM_004366.5:c.1412G>A (CLCN2)	NP_004357.3:p.Arg471His
ENST00000265593.8:c.1412G>A (CLCN2)	ENSP00000265593.4:p.Arg471His
ENST00000344937.11:c.1397-36G>A (CLCN2)	ENSP00000345056.7:n.1397-36G>A
ENST00000430397.5:c.279G>A (CLCN2)
ENST00000434054.6:c.1280G>A (CLCN2)	ENSP00000400425.2:p.Arg427His
ENST00000444495.1:c.2106+209936C>T (EIF2B5)	ENSP00000409142.1:n.2106+209936C>T
ENST00000457512.1:c.1412G>A (CLCN2)	ENSP00000391928.1:p.Arg471His
ENST00000475279.2:c.794G>A (CLCN2)
ENST00000636180.1:c.*444G>A (CLCN2)	ENSP00000490374.1:n.*444G>A
ENST00000636241.1:c.1227G>A (CLCN2)
ENST00000636419.1:c.66G>A (CLCN2)
ENST00000636492.1:c.1295G>A (CLCN2)	ENSP00000490313.1:p.Arg432His
ENST00000636658.1:c.673G>A (CLCN2)
ENST00000636661.1:c.*1602G>A (CLCN2)	ENSP00000490764.1:n.*1602G>A
ENST00000637392.1:n.3088G>A (CLCN2)
ENST00000637538.1:c.648G>A (CLCN2)
ENST00000637909.1:c.1218G>A (CLCN2)
ENST00000638134.1:c.1620G>A (CLCN2)
XM_006713489.1:c.1412G>A (CLCN2)	XP_006713552.1:p.Arg471His
XM_006713490.1:c.254G>A (CLCN2)	XP_006713553.1:p.Arg85His
XM_006713490.2:c.254G>A (CLCN2)	XP_006713553.1:p.Arg85His
XM_011512401.1:c.1412G>A (CLCN2)	XP_011510703.1:p.Arg471His
XM_011512402.1:c.1468G>A (CLCN2)	XP_011510704.1:p.Val490Ile
XR_001740001.1:n.1592G>A (CLCN2)
XR_001740002.1:n.1592G>A (CLCN2)