Canonical Allele Identifier: CA355452475

Gene: CLCN2 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184073236G>C (hg19) ; chr3:g.184355448G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355448G>C , CM000665.2:g.184355448G>C	GRCh38
NC_000003.11:g.184073236G>C , CM000665.1:g.184073236G>C	GRCh37
NC_000003.10:g.185555930G>C	NCBI36
NG_016422.1:g.11156C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1252C>G (CLCN2) MANE Select	ENSP00000265593.4:p.Pro418Ala
ENST00000475279.2:c.634C>G (CLCN2)
ENST00000636180.1:c.*228C>G (CLCN2)	ENSP00000490374.1:n.*228C>G
ENST00000636241.1:c.1143C>G (CLCN2)
ENST00000636492.1:c.1135C>G (CLCN2)	ENSP00000490313.1:p.Pro379Ala
ENST00000636658.1:c.513C>G (CLCN2)
ENST00000636661.1:c.*1442C>G (CLCN2)	ENSP00000490764.1:n.*1442C>G
ENST00000637392.1:n.2528C>G (CLCN2)
ENST00000637538.1:c.558C>G (CLCN2)
ENST00000637909.1:c.1058C>G (CLCN2)
ENST00000638134.1:c.1060C>G (CLCN2)
ENST00000265593.8:c.1252C>G (CLCN2)	ENSP00000265593.4:p.Pro418Ala
ENST00000344937.11:c.1252C>G (CLCN2)	ENSP00000345056.7:p.Pro418Ala
ENST00000430397.5:c.195C>G (CLCN2)
ENST00000434054.6:c.1120C>G (CLCN2)	ENSP00000400425.2:p.Pro374Ala
ENST00000444495.1:c.2106+210741G>C (EIF2B5)	ENSP00000409142.1:n.2106+210741G>C
ENST00000457512.1:c.1252C>G (CLCN2)	ENSP00000391928.1:p.Pro418Ala
ENST00000475279.1:n.270C>G (CLCN2)
ENST00000485667.1:n.1259C>G (CLCN2)
NM_001171087.2:c.1252C>G (CLCN2)	NP_001164558.1:p.Pro418Ala
NM_001171088.2:c.1120C>G (CLCN2)	NP_001164559.1:p.Pro374Ala
NM_001171089.2:c.1252C>G (CLCN2)	NP_001164560.1:p.Pro418Ala
NM_004366.5:c.1252C>G (CLCN2)	NP_004357.3:p.Pro418Ala
XM_006713489.1:c.1252C>G (CLCN2)	XP_006713552.1:p.Pro418Ala
XM_006713490.1:c.94C>G (CLCN2)	XP_006713553.1:p.Pro32Ala
XM_011512401.1:c.1252C>G (CLCN2)	XP_011510703.1:p.Pro418Ala
XM_011512402.1:c.1252C>G (CLCN2)	XP_011510704.1:p.Pro418Ala
XM_006713490.2:c.94C>G (CLCN2)	XP_006713553.1:p.Pro32Ala
XR_001740001.1:n.1376C>G (CLCN2)
XR_001740002.1:n.1376C>G (CLCN2)
NM_004366.6:c.1252C>G (CLCN2) MANE Select	NP_004357.3:p.Pro418Ala
NM_001171087.3:c.1252C>G (CLCN2)	NP_001164558.1:p.Pro418Ala
NM_001171088.3:c.1120C>G (CLCN2)	NP_001164559.1:p.Pro374Ala
NM_001171089.3:c.1252C>G (CLCN2)	NP_001164560.1:p.Pro418Ala