Canonical Allele Identifier: CA2733709

Gene: CLCN2 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184352029C>T , CM000665.2:g.184352029C>T	GRCh38
NC_000003.11:g.184069817C>T , CM000665.1:g.184069817C>T	GRCh37
NC_000003.10:g.185552511C>T	NCBI36
NG_016422.1:g.14575G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004366.6:c.2399G>A (CLCN2) MANE Select	NP_004357.3:p.Arg800Gln
ENST00000265593.9:c.2399G>A (CLCN2) MANE Select	ENSP00000265593.4:p.Arg800Gln
NM_001171087.2:c.2348G>A (CLCN2)	NP_001164558.1:p.Arg783Gln
NM_001171087.3:c.2348G>A (CLCN2)	NP_001164558.1:p.Arg783Gln
NM_001171088.2:c.2267G>A (CLCN2)	NP_001164559.1:p.Arg756Gln
NM_001171088.3:c.2267G>A (CLCN2)	NP_001164559.1:p.Arg756Gln
NM_001171089.2:c.2399G>A (CLCN2)	NP_001164560.1:p.Arg800Gln
NM_001171089.3:c.2399G>A (CLCN2)	NP_001164560.1:p.Arg800Gln
NM_004366.5:c.2399G>A (CLCN2)	NP_004357.3:p.Arg800Gln
ENST00000265593.8:c.2399G>A (CLCN2)	ENSP00000265593.4:p.Arg800Gln
ENST00000344937.11:c.2348G>A (CLCN2)	ENSP00000345056.7:p.Arg783Gln
ENST00000430397.5:c.1177+264G>A (CLCN2)
ENST00000434054.6:c.2267G>A (CLCN2)	ENSP00000400425.2:p.Arg756Gln
ENST00000444495.1:c.2106+207322C>T (EIF2B5)	ENSP00000409142.1:n.2106+207322C>T
ENST00000457512.1:c.2399G>A (CLCN2)	ENSP00000391928.1:p.Arg800Gln
ENST00000636180.1:c.*1297G>A (CLCN2)	ENSP00000490374.1:n.*1297G>A
ENST00000636661.1:c.*2709G>A (CLCN2)	ENSP00000490764.1:n.*2709G>A
ENST00000637392.1:n.3941G>A (CLCN2)
ENST00000637909.1:c.2205G>A (CLCN2)
XM_006713489.1:c.2310+264G>A (CLCN2)	XP_006713552.1:n.2310+264G>A
XM_006713490.1:c.1241G>A (CLCN2)	XP_006713553.1:p.Arg414Gln
XM_006713490.2:c.1241G>A (CLCN2)	XP_006713553.1:p.Arg414Gln
XM_011512401.1:c.2399G>A (CLCN2)	XP_011510703.1:p.Arg800Gln
XR_001740001.1:n.2579G>A (CLCN2)
XR_001740002.1:n.2490+264G>A (CLCN2)