Canonical Allele Identifier: CA903716952

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs1183019497
• gnomAD v3: 3-184355317-A-G
• gnomAD v4: 3-184355317-A-G
• MyVariant Identifiers: chr3:g.184073105A>G (hg19) ; chr3:g.184355317A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355317A>G , CM000665.2:g.184355317A>G	GRCh38
NC_000003.11:g.184073105A>G , CM000665.1:g.184073105A>G	GRCh37
NC_000003.10:g.185555799A>G	NCBI36
NG_016422.1:g.11287T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1326+57T>C (CLCN2) MANE Select	ENSP00000265593.4:n.1326+57T>C
ENST00000475279.2:c.708+57T>C (CLCN2)
ENST00000636180.1:c.*302+57T>C (CLCN2)	ENSP00000490374.1:n.*302+57T>C
ENST00000636241.1:c.1217+57T>C (CLCN2)
ENST00000636492.1:c.1209+57T>C (CLCN2)	ENSP00000490313.1:n.1209+57T>C
ENST00000636658.1:c.587+57T>C (CLCN2)
ENST00000636661.1:c.*1516+57T>C (CLCN2)	ENSP00000490764.1:n.*1516+57T>C
ENST00000637392.1:n.2659T>C (CLCN2)
ENST00000637538.1:c.632+57T>C (CLCN2)
ENST00000637909.1:c.1132+57T>C (CLCN2)
ENST00000638134.1:c.1191T>C (CLCN2)
ENST00000265593.8:c.1326+57T>C (CLCN2)	ENSP00000265593.4:n.1326+57T>C
ENST00000344937.11:c.1326+57T>C (CLCN2)	ENSP00000345056.7:n.1326+57T>C
ENST00000430397.5:c.269+57T>C (CLCN2)
ENST00000434054.6:c.1194+57T>C (CLCN2)	ENSP00000400425.2:n.1194+57T>C
ENST00000444495.1:c.2106+210610A>G (EIF2B5)	ENSP00000409142.1:n.2106+210610A>G
ENST00000457512.1:c.1326+57T>C (CLCN2)	ENSP00000391928.1:n.1326+57T>C
ENST00000485667.1:n.1390T>C (CLCN2)
NM_001171087.2:c.1326+57T>C (CLCN2)	NP_001164558.1:n.1326+57T>C
NM_001171088.2:c.1194+57T>C (CLCN2)	NP_001164559.1:n.1194+57T>C
NM_001171089.2:c.1326+57T>C (CLCN2)	NP_001164560.1:n.1326+57T>C
NM_004366.5:c.1326+57T>C (CLCN2)	NP_004357.3:n.1326+57T>C
XM_006713489.1:c.1326+57T>C (CLCN2)	XP_006713552.1:n.1326+57T>C
XM_006713490.1:c.168+57T>C (CLCN2)	XP_006713553.1:n.168+57T>C
XM_011512401.1:c.1326+57T>C (CLCN2)	XP_011510703.1:n.1326+57T>C
XM_011512402.1:c.1326+57T>C (CLCN2)	XP_011510704.1:n.1326+57T>C
XM_006713490.2:c.168+57T>C (CLCN2)	XP_006713553.1:n.168+57T>C
XR_001740001.1:n.1450+57T>C (CLCN2)
XR_001740002.1:n.1450+57T>C (CLCN2)
NM_004366.6:c.1326+57T>C (CLCN2) MANE Select	NP_004357.3:n.1326+57T>C
NM_001171087.3:c.1326+57T>C (CLCN2)	NP_001164558.1:n.1326+57T>C
NM_001171088.3:c.1194+57T>C (CLCN2)	NP_001164559.1:n.1194+57T>C
NM_001171089.3:c.1326+57T>C (CLCN2)	NP_001164560.1:n.1326+57T>C