Canonical Allele Identifier: CA355453064

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs1367424285
• gnomAD v2: 3-184073307-T-C
• gnomAD v4: 3-184355519-T-C
• MyVariant Identifiers: chr3:g.184073307T>C (hg19) ; chr3:g.184355519T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355519T>C , CM000665.2:g.184355519T>C	GRCh38
NC_000003.11:g.184073307T>C , CM000665.1:g.184073307T>C	GRCh37
NC_000003.10:g.185556001T>C	NCBI36
NG_016422.1:g.11085A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1181A>G (CLCN2) MANE Select	ENSP00000265593.4:p.Lys394Arg
ENST00000475279.2:c.563A>G (CLCN2)
ENST00000636180.1:c.*157A>G (CLCN2)	ENSP00000490374.1:n.*157A>G
ENST00000636241.1:c.1072A>G (CLCN2)
ENST00000636492.1:c.1064A>G (CLCN2)	ENSP00000490313.1:p.Lys355Arg
ENST00000636658.1:c.442A>G (CLCN2)
ENST00000636661.1:c.*1371A>G (CLCN2)	ENSP00000490764.1:n.*1371A>G
ENST00000637392.1:n.2457A>G (CLCN2)
ENST00000637538.1:c.487A>G (CLCN2)
ENST00000637909.1:c.987A>G (CLCN2)
ENST00000638134.1:c.989A>G (CLCN2)
ENST00000265593.8:c.1181A>G (CLCN2)	ENSP00000265593.4:p.Lys394Arg
ENST00000344937.11:c.1181A>G (CLCN2)	ENSP00000345056.7:p.Lys394Arg
ENST00000430397.5:c.124A>G (CLCN2)
ENST00000434054.6:c.1049A>G (CLCN2)	ENSP00000400425.2:p.Lys350Arg
ENST00000444495.1:c.2106+210812T>C (EIF2B5)	ENSP00000409142.1:n.2106+210812T>C
ENST00000457512.1:c.1181A>G (CLCN2)	ENSP00000391928.1:p.Lys394Arg
ENST00000475279.1:n.199A>G (CLCN2)
ENST00000485667.1:n.1188A>G (CLCN2)
NM_001171087.2:c.1181A>G (CLCN2)	NP_001164558.1:p.Lys394Arg
NM_001171088.2:c.1049A>G (CLCN2)	NP_001164559.1:p.Lys350Arg
NM_001171089.2:c.1181A>G (CLCN2)	NP_001164560.1:p.Lys394Arg
NM_004366.5:c.1181A>G (CLCN2)	NP_004357.3:p.Lys394Arg
XM_006713489.1:c.1181A>G (CLCN2)	XP_006713552.1:p.Lys394Arg
XM_006713490.1:c.23A>G (CLCN2)	XP_006713553.1:p.Lys8Arg
XM_011512401.1:c.1181A>G (CLCN2)	XP_011510703.1:p.Lys394Arg
XM_011512402.1:c.1181A>G (CLCN2)	XP_011510704.1:p.Lys394Arg
XM_006713490.2:c.23A>G (CLCN2)	XP_006713553.1:p.Lys8Arg
XR_001740001.1:n.1305A>G (CLCN2)
XR_001740002.1:n.1305A>G (CLCN2)
NM_004366.6:c.1181A>G (CLCN2) MANE Select	NP_004357.3:p.Lys394Arg
NM_001171087.3:c.1181A>G (CLCN2)	NP_001164558.1:p.Lys394Arg
NM_001171088.3:c.1049A>G (CLCN2)	NP_001164559.1:p.Lys350Arg
NM_001171089.3:c.1181A>G (CLCN2)	NP_001164560.1:p.Lys394Arg