Canonical Allele Identifier: CA355453536

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs745547651
• gnomAD v2: 3-184073517-A-G
• gnomAD v4: 3-184355729-A-G
• MyVariant Identifiers: chr3:g.184073517A>G (hg19) ; chr3:g.184355729A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355729A>G , CM000665.2:g.184355729A>G	GRCh38
NC_000003.11:g.184073517A>G , CM000665.1:g.184073517A>G	GRCh37
NC_000003.10:g.185556211A>G	NCBI36
NG_016422.1:g.10875T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1135T>C (CLCN2) MANE Select	ENSP00000265593.4:p.Phe379Leu
ENST00000475279.2:c.517T>C (CLCN2)
ENST00000636180.1:c.*111T>C (CLCN2)	ENSP00000490374.1:n.*111T>C
ENST00000636241.1:c.1026T>C (CLCN2)
ENST00000636492.1:c.1018T>C (CLCN2)	ENSP00000490313.1:p.Phe340Leu
ENST00000636658.1:c.396T>C (CLCN2)
ENST00000636661.1:c.*1325T>C (CLCN2)	ENSP00000490764.1:n.*1325T>C
ENST00000637392.1:n.2247T>C (CLCN2)
ENST00000637538.1:c.441T>C (CLCN2)
ENST00000637909.1:c.941T>C (CLCN2)
ENST00000638134.1:c.943T>C (CLCN2)
ENST00000265593.8:c.1135T>C (CLCN2)	ENSP00000265593.4:p.Phe379Leu
ENST00000344937.11:c.1135T>C (CLCN2)	ENSP00000345056.7:p.Phe379Leu
ENST00000430397.5:c.78T>C (CLCN2)
ENST00000434054.6:c.1003T>C (CLCN2)	ENSP00000400425.2:p.Phe335Leu
ENST00000444495.1:c.2106+211022A>G (EIF2B5)	ENSP00000409142.1:n.2106+211022A>G
ENST00000457512.1:c.1135T>C (CLCN2)	ENSP00000391928.1:p.Phe379Leu
ENST00000475279.1:n.153T>C (CLCN2)
ENST00000485667.1:n.1142T>C (CLCN2)
NM_001171087.2:c.1135T>C (CLCN2)	NP_001164558.1:p.Phe379Leu
NM_001171088.2:c.1003T>C (CLCN2)	NP_001164559.1:p.Phe335Leu
NM_001171089.2:c.1135T>C (CLCN2)	NP_001164560.1:p.Phe379Leu
NM_004366.5:c.1135T>C (CLCN2)	NP_004357.3:p.Phe379Leu
XM_006713489.1:c.1135T>C (CLCN2)	XP_006713552.1:p.Phe379Leu
XM_006713490.1:c.-24T>C (CLCN2)	XP_006713553.1:n.-24T>C
XM_011512401.1:c.1135T>C (CLCN2)	XP_011510703.1:p.Phe379Leu
XM_011512402.1:c.1135T>C (CLCN2)	XP_011510704.1:p.Phe379Leu
XM_006713490.2:c.-24T>C (CLCN2)	XP_006713553.1:n.-24T>C
XR_001740001.1:n.1259T>C (CLCN2)
XR_001740002.1:n.1259T>C (CLCN2)
NM_004366.6:c.1135T>C (CLCN2) MANE Select	NP_004357.3:p.Phe379Leu
NM_001171087.3:c.1135T>C (CLCN2)	NP_001164558.1:p.Phe379Leu
NM_001171088.3:c.1003T>C (CLCN2)	NP_001164559.1:p.Phe335Leu
NM_001171089.3:c.1135T>C (CLCN2)	NP_001164560.1:p.Phe379Leu