Canonical Allele Identifier: CA88896089

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs750150321
• MyVariant Identifiers: chr3:g.184073289A>T (hg19) ; chr3:g.184355501A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355501A>T , CM000665.2:g.184355501A>T	GRCh38
NC_000003.11:g.184073289A>T , CM000665.1:g.184073289A>T	GRCh37
NC_000003.10:g.185555983A>T	NCBI36
NG_016422.1:g.11103T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1199T>A (CLCN2) MANE Select	ENSP00000265593.4:p.Leu400Gln
ENST00000475279.2:c.581T>A (CLCN2)
ENST00000636180.1:c.*175T>A (CLCN2)	ENSP00000490374.1:n.*175T>A
ENST00000636241.1:c.1090T>A (CLCN2)
ENST00000636492.1:c.1082T>A (CLCN2)	ENSP00000490313.1:p.Leu361Gln
ENST00000636658.1:c.460T>A (CLCN2)
ENST00000636661.1:c.*1389T>A (CLCN2)	ENSP00000490764.1:n.*1389T>A
ENST00000637392.1:n.2475T>A (CLCN2)
ENST00000637538.1:c.505T>A (CLCN2)
ENST00000637909.1:c.1005T>A (CLCN2)
ENST00000638134.1:c.1007T>A (CLCN2)
ENST00000265593.8:c.1199T>A (CLCN2)	ENSP00000265593.4:p.Leu400Gln
ENST00000344937.11:c.1199T>A (CLCN2)	ENSP00000345056.7:p.Leu400Gln
ENST00000430397.5:c.142T>A (CLCN2)
ENST00000434054.6:c.1067T>A (CLCN2)	ENSP00000400425.2:p.Leu356Gln
ENST00000444495.1:c.2106+210794A>T (EIF2B5)	ENSP00000409142.1:n.2106+210794A>T
ENST00000457512.1:c.1199T>A (CLCN2)	ENSP00000391928.1:p.Leu400Gln
ENST00000475279.1:n.217T>A (CLCN2)
ENST00000485667.1:n.1206T>A (CLCN2)
NM_001171087.2:c.1199T>A (CLCN2)	NP_001164558.1:p.Leu400Gln
NM_001171088.2:c.1067T>A (CLCN2)	NP_001164559.1:p.Leu356Gln
NM_001171089.2:c.1199T>A (CLCN2)	NP_001164560.1:p.Leu400Gln
NM_004366.5:c.1199T>A (CLCN2)	NP_004357.3:p.Leu400Gln
XM_006713489.1:c.1199T>A (CLCN2)	XP_006713552.1:p.Leu400Gln
XM_006713490.1:c.41T>A (CLCN2)	XP_006713553.1:p.Leu14Gln
XM_011512401.1:c.1199T>A (CLCN2)	XP_011510703.1:p.Leu400Gln
XM_011512402.1:c.1199T>A (CLCN2)	XP_011510704.1:p.Leu400Gln
XM_006713490.2:c.41T>A (CLCN2)	XP_006713553.1:p.Leu14Gln
XR_001740001.1:n.1323T>A (CLCN2)
XR_001740002.1:n.1323T>A (CLCN2)
NM_004366.6:c.1199T>A (CLCN2) MANE Select	NP_004357.3:p.Leu400Gln
NM_001171087.3:c.1199T>A (CLCN2)	NP_001164558.1:p.Leu400Gln
NM_001171088.3:c.1067T>A (CLCN2)	NP_001164559.1:p.Leu356Gln
NM_001171089.3:c.1199T>A (CLCN2)	NP_001164560.1:p.Leu400Gln