Canonical Allele Identifier: CA2733716

Gene: CLCN2 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184352064G>C , CM000665.2:g.184352064G>C	GRCh38
NC_000003.11:g.184069852G>C , CM000665.1:g.184069852G>C	GRCh37
NC_000003.10:g.185552546G>C	NCBI36
NG_016422.1:g.14540C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004366.6:c.2364C>G (CLCN2) MANE Select	NP_004357.3:p.Cys788Trp
ENST00000265593.9:c.2364C>G (CLCN2) MANE Select	ENSP00000265593.4:p.Cys788Trp
NM_001171087.2:c.2313C>G (CLCN2)	NP_001164558.1:p.Cys771Trp
NM_001171087.3:c.2313C>G (CLCN2)	NP_001164558.1:p.Cys771Trp
NM_001171088.2:c.2232C>G (CLCN2)	NP_001164559.1:p.Cys744Trp
NM_001171088.3:c.2232C>G (CLCN2)	NP_001164559.1:p.Cys744Trp
NM_001171089.2:c.2364C>G (CLCN2)	NP_001164560.1:p.Cys788Trp
NM_001171089.3:c.2364C>G (CLCN2)	NP_001164560.1:p.Cys788Trp
NM_004366.5:c.2364C>G (CLCN2)	NP_004357.3:p.Cys788Trp
ENST00000265593.8:c.2364C>G (CLCN2)	ENSP00000265593.4:p.Cys788Trp
ENST00000344937.11:c.2313C>G (CLCN2)	ENSP00000345056.7:p.Cys771Trp
ENST00000430397.5:c.1177+229C>G (CLCN2)
ENST00000434054.6:c.2232C>G (CLCN2)	ENSP00000400425.2:p.Cys744Trp
ENST00000444495.1:c.2106+207357G>C (EIF2B5)	ENSP00000409142.1:n.2106+207357G>C
ENST00000457512.1:c.2364C>G (CLCN2)	ENSP00000391928.1:p.Cys788Trp
ENST00000636180.1:c.*1262C>G (CLCN2)	ENSP00000490374.1:n.*1262C>G
ENST00000636661.1:c.*2674C>G (CLCN2)	ENSP00000490764.1:n.*2674C>G
ENST00000637392.1:n.3906C>G (CLCN2)
ENST00000637909.1:c.2170C>G (CLCN2)
XM_006713489.1:c.2310+229C>G (CLCN2)	XP_006713552.1:n.2310+229C>G
XM_006713490.1:c.1206C>G (CLCN2)	XP_006713553.1:p.Cys402Trp
XM_006713490.2:c.1206C>G (CLCN2)	XP_006713553.1:p.Cys402Trp
XM_011512401.1:c.2364C>G (CLCN2)	XP_011510703.1:p.Cys788Trp
XR_001740001.1:n.2544C>G (CLCN2)
XR_001740002.1:n.2490+229C>G (CLCN2)