Canonical Allele Identifier: CA355453472

Gene: CLCN2 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184073504A>G (hg19) ; chr3:g.184355716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355716A>G , CM000665.2:g.184355716A>G	GRCh38
NC_000003.11:g.184073504A>G , CM000665.1:g.184073504A>G	GRCh37
NC_000003.10:g.185556198A>G	NCBI36
NG_016422.1:g.10888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1148T>C (CLCN2) MANE Select	ENSP00000265593.4:p.Phe383Ser
ENST00000475279.2:c.530T>C (CLCN2)
ENST00000636180.1:c.*124T>C (CLCN2)	ENSP00000490374.1:n.*124T>C
ENST00000636241.1:c.1039T>C (CLCN2)
ENST00000636492.1:c.1031T>C (CLCN2)	ENSP00000490313.1:p.Phe344Ser
ENST00000636658.1:c.409T>C (CLCN2)
ENST00000636661.1:c.*1338T>C (CLCN2)	ENSP00000490764.1:n.*1338T>C
ENST00000637392.1:n.2260T>C (CLCN2)
ENST00000637538.1:c.454T>C (CLCN2)
ENST00000637909.1:c.954T>C (CLCN2)
ENST00000638134.1:c.956T>C (CLCN2)
ENST00000265593.8:c.1148T>C (CLCN2)	ENSP00000265593.4:p.Phe383Ser
ENST00000344937.11:c.1148T>C (CLCN2)	ENSP00000345056.7:p.Phe383Ser
ENST00000430397.5:c.91T>C (CLCN2)
ENST00000434054.6:c.1016T>C (CLCN2)	ENSP00000400425.2:p.Phe339Ser
ENST00000444495.1:c.2106+211009A>G (EIF2B5)	ENSP00000409142.1:n.2106+211009A>G
ENST00000457512.1:c.1148T>C (CLCN2)	ENSP00000391928.1:p.Phe383Ser
ENST00000475279.1:n.166T>C (CLCN2)
ENST00000485667.1:n.1155T>C (CLCN2)
NM_001171087.2:c.1148T>C (CLCN2)	NP_001164558.1:p.Phe383Ser
NM_001171088.2:c.1016T>C (CLCN2)	NP_001164559.1:p.Phe339Ser
NM_001171089.2:c.1148T>C (CLCN2)	NP_001164560.1:p.Phe383Ser
NM_004366.5:c.1148T>C (CLCN2)	NP_004357.3:p.Phe383Ser
XM_006713489.1:c.1148T>C (CLCN2)	XP_006713552.1:p.Phe383Ser
XM_006713490.1:c.-11T>C (CLCN2)	XP_006713553.1:n.-11T>C
XM_011512401.1:c.1148T>C (CLCN2)	XP_011510703.1:p.Phe383Ser
XM_011512402.1:c.1148T>C (CLCN2)	XP_011510704.1:p.Phe383Ser
XM_006713490.2:c.-11T>C (CLCN2)	XP_006713553.1:n.-11T>C
XR_001740001.1:n.1272T>C (CLCN2)
XR_001740002.1:n.1272T>C (CLCN2)
NM_004366.6:c.1148T>C (CLCN2) MANE Select	NP_004357.3:p.Phe383Ser
NM_001171087.3:c.1148T>C (CLCN2)	NP_001164558.1:p.Phe383Ser
NM_001171088.3:c.1016T>C (CLCN2)	NP_001164559.1:p.Phe339Ser
NM_001171089.3:c.1148T>C (CLCN2)	NP_001164560.1:p.Phe383Ser