Canonical Allele Identifier: CA2734230

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs749440331
• ExAC: 3:184073535 G / C
• gnomAD v2: 3-184073535-G-C
• gnomAD v3: 3-184355747-G-C
• gnomAD v4: 3-184355747-G-C
• MyVariant Identifiers: chr3:g.184073535G>C (hg19) ; chr3:g.184355747G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355747G>C , CM000665.2:g.184355747G>C	GRCh38
NC_000003.11:g.184073535G>C , CM000665.1:g.184073535G>C	GRCh37
NC_000003.10:g.185556229G>C	NCBI36
NG_016422.1:g.10857C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1117C>G (CLCN2) MANE Select	ENSP00000265593.4:p.Leu373Val
ENST00000475279.2:c.499C>G (CLCN2)
ENST00000636180.1:c.*93C>G (CLCN2)	ENSP00000490374.1:n.*93C>G
ENST00000636241.1:c.1008C>G (CLCN2)
ENST00000636492.1:c.1000C>G (CLCN2)	ENSP00000490313.1:p.Leu334Val
ENST00000636658.1:c.378C>G (CLCN2)
ENST00000636661.1:c.*1307C>G (CLCN2)	ENSP00000490764.1:n.*1307C>G
ENST00000637392.1:n.2229C>G (CLCN2)
ENST00000637538.1:c.423C>G (CLCN2)
ENST00000637909.1:c.923C>G (CLCN2)
ENST00000638134.1:c.925C>G (CLCN2)
ENST00000265593.8:c.1117C>G (CLCN2)	ENSP00000265593.4:p.Leu373Val
ENST00000344937.11:c.1117C>G (CLCN2)	ENSP00000345056.7:p.Leu373Val
ENST00000430397.5:c.60C>G (CLCN2)
ENST00000434054.6:c.985C>G (CLCN2)	ENSP00000400425.2:p.Leu329Val
ENST00000444495.1:c.2106+211040G>C (EIF2B5)	ENSP00000409142.1:n.2106+211040G>C
ENST00000457512.1:c.1117C>G (CLCN2)	ENSP00000391928.1:p.Leu373Val
ENST00000475279.1:n.135C>G (CLCN2)
ENST00000485667.1:n.1124C>G (CLCN2)
NM_001171087.2:c.1117C>G (CLCN2)	NP_001164558.1:p.Leu373Val
NM_001171088.2:c.985C>G (CLCN2)	NP_001164559.1:p.Leu329Val
NM_001171089.2:c.1117C>G (CLCN2)	NP_001164560.1:p.Leu373Val
NM_004366.5:c.1117C>G (CLCN2)	NP_004357.3:p.Leu373Val
XM_006713489.1:c.1117C>G (CLCN2)	XP_006713552.1:p.Leu373Val
XM_006713490.1:c.-42C>G (CLCN2)	XP_006713553.1:n.-42C>G
XM_011512401.1:c.1117C>G (CLCN2)	XP_011510703.1:p.Leu373Val
XM_011512402.1:c.1117C>G (CLCN2)	XP_011510704.1:p.Leu373Val
XM_006713490.2:c.-42C>G (CLCN2)	XP_006713553.1:n.-42C>G
XR_001740001.1:n.1241C>G (CLCN2)
XR_001740002.1:n.1241C>G (CLCN2)
NM_004366.6:c.1117C>G (CLCN2) MANE Select	NP_004357.3:p.Leu373Val
NM_001171087.3:c.1117C>G (CLCN2)	NP_001164558.1:p.Leu373Val
NM_001171088.3:c.985C>G (CLCN2)	NP_001164559.1:p.Leu329Val
NM_001171089.3:c.1117C>G (CLCN2)	NP_001164560.1:p.Leu373Val