Canonical Allele Identifier: CA2733649

Gene: CLCN2 FAM131A EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184346796C>T , CM000665.2:g.184346796C>T	GRCh38
NC_000003.11:g.184064584C>T , CM000665.1:g.184064584C>T	GRCh37
NC_000003.10:g.185547278C>T	NCBI36
NG_016422.1:g.19808G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004366.6:c.2507G>A (CLCN2) MANE Select	NP_004357.3:p.Arg836Gln
ENST00000265593.9:c.2507G>A (CLCN2) MANE Select	ENSP00000265593.4:p.Arg836Gln
NM_001171087.2:c.2456G>A (CLCN2)	NP_001164558.1:p.Arg819Gln
NM_001171087.3:c.2456G>A (CLCN2)	NP_001164558.1:p.Arg819Gln
NM_001171088.2:c.2375G>A (CLCN2)	NP_001164559.1:p.Arg792Gln
NM_001171088.3:c.2375G>A (CLCN2)	NP_001164559.1:p.Arg792Gln
NM_001171089.2:c.2420G>A (CLCN2)	NP_001164560.1:p.Arg807Gln
NM_001171089.3:c.2420G>A (CLCN2)	NP_001164560.1:p.Arg807Gln
NM_004366.5:c.2507G>A (CLCN2)	NP_004357.3:p.Arg836Gln
ENST00000265593.8:c.2507G>A (CLCN2)	ENSP00000265593.4:p.Arg836Gln
ENST00000344937.11:c.2456G>A (CLCN2)	ENSP00000345056.7:p.Arg819Gln
ENST00000430397.5:c.1269G>A (CLCN2)
ENST00000434054.6:c.2375G>A (CLCN2)	ENSP00000400425.2:p.Arg792Gln
ENST00000444495.1:c.2106+202089C>T (EIF2B5)	ENSP00000409142.1:n.2106+202089C>T
ENST00000457512.1:c.2420G>A (CLCN2)	ENSP00000391928.1:p.Arg807Gln
ENST00000636180.1:c.*1405G>A (CLCN2)	ENSP00000490374.1:n.*1405G>A
ENST00000636661.1:c.*2817G>A (CLCN2)	ENSP00000490764.1:n.*2817G>A
ENST00000636830.1:n.2637G>A (CLCN2)
ENST00000637392.1:n.4049G>A (CLCN2)
ENST00000637909.1:c.2313G>A (CLCN2)
ENST00000639617.1:c.*1319C>T (FAM131A)	ENSP00000491845.1:n.*1319C>T
XM_006713489.1:c.2402G>A (CLCN2)	XP_006713552.1:p.Arg801Gln
XM_006713490.1:c.1349G>A (CLCN2)	XP_006713553.1:p.Arg450Gln
XM_006713490.2:c.1349G>A (CLCN2)	XP_006713553.1:p.Arg450Gln
XR_001740001.1:n.2687G>A (CLCN2)
XR_001740002.1:n.2582G>A (CLCN2)