Canonical Allele Identifier: CA2734178

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs758705606
• ExAC: 3:184073197 C / G
• gnomAD v4: 3-184355409-C-G
• MyVariant Identifiers: chr3:g.184073197C>G (hg19) ; chr3:g.184355409C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355409C>G , CM000665.2:g.184355409C>G	GRCh38
NC_000003.11:g.184073197C>G , CM000665.1:g.184073197C>G	GRCh37
NC_000003.10:g.185555891C>G	NCBI36
NG_016422.1:g.11195G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1291G>C (CLCN2) MANE Select	ENSP00000265593.4:p.Val431Leu
ENST00000475279.2:c.673G>C (CLCN2)
ENST00000636180.1:c.*267G>C (CLCN2)	ENSP00000490374.1:n.*267G>C
ENST00000636241.1:c.1182G>C (CLCN2)
ENST00000636492.1:c.1174G>C (CLCN2)	ENSP00000490313.1:p.Val392Leu
ENST00000636658.1:c.552G>C (CLCN2)
ENST00000636661.1:c.*1481G>C (CLCN2)	ENSP00000490764.1:n.*1481G>C
ENST00000637392.1:n.2567G>C (CLCN2)
ENST00000637538.1:c.597G>C (CLCN2)
ENST00000637909.1:c.1097G>C (CLCN2)
ENST00000638134.1:c.1099G>C (CLCN2)
ENST00000265593.8:c.1291G>C (CLCN2)	ENSP00000265593.4:p.Val431Leu
ENST00000344937.11:c.1291G>C (CLCN2)	ENSP00000345056.7:p.Val431Leu
ENST00000430397.5:c.234G>C (CLCN2)
ENST00000434054.6:c.1159G>C (CLCN2)	ENSP00000400425.2:p.Val387Leu
ENST00000444495.1:c.2106+210702C>G (EIF2B5)	ENSP00000409142.1:n.2106+210702C>G
ENST00000457512.1:c.1291G>C (CLCN2)	ENSP00000391928.1:p.Val431Leu
ENST00000475279.1:n.309G>C (CLCN2)
ENST00000485667.1:n.1298G>C (CLCN2)
NM_001171087.2:c.1291G>C (CLCN2)	NP_001164558.1:p.Val431Leu
NM_001171088.2:c.1159G>C (CLCN2)	NP_001164559.1:p.Val387Leu
NM_001171089.2:c.1291G>C (CLCN2)	NP_001164560.1:p.Val431Leu
NM_004366.5:c.1291G>C (CLCN2)	NP_004357.3:p.Val431Leu
XM_006713489.1:c.1291G>C (CLCN2)	XP_006713552.1:p.Val431Leu
XM_006713490.1:c.133G>C (CLCN2)	XP_006713553.1:p.Val45Leu
XM_011512401.1:c.1291G>C (CLCN2)	XP_011510703.1:p.Val431Leu
XM_011512402.1:c.1291G>C (CLCN2)	XP_011510704.1:p.Val431Leu
XM_006713490.2:c.133G>C (CLCN2)	XP_006713553.1:p.Val45Leu
XR_001740001.1:n.1415G>C (CLCN2)
XR_001740002.1:n.1415G>C (CLCN2)
NM_004366.6:c.1291G>C (CLCN2) MANE Select	NP_004357.3:p.Val431Leu
NM_001171087.3:c.1291G>C (CLCN2)	NP_001164558.1:p.Val431Leu
NM_001171088.3:c.1159G>C (CLCN2)	NP_001164559.1:p.Val387Leu
NM_001171089.3:c.1291G>C (CLCN2)	NP_001164560.1:p.Val431Leu