Canonical Allele Identifier: CA2704834137

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs2108568963

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355827G>C , CM000665.2:g.184355827G>C	GRCh38
NC_000003.11:g.184073615G>C , CM000665.1:g.184073615G>C	GRCh37
NC_000003.10:g.185556309G>C	NCBI36
NG_016422.1:g.10777C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1086-49C>G (CLCN2) MANE Select	ENSP00000265593.4:n.1086-49C>G
ENST00000475279.2:c.419C>G (CLCN2)
ENST00000636180.1:c.*62-49C>G (CLCN2)	ENSP00000490374.1:n.*62-49C>G
ENST00000636241.1:c.977-49C>G (CLCN2)
ENST00000636492.1:c.969-49C>G (CLCN2)	ENSP00000490313.1:n.969-49C>G
ENST00000636658.1:c.347-49C>G (CLCN2)
ENST00000636661.1:c.*1227C>G (CLCN2)	ENSP00000490764.1:n.*1227C>G
ENST00000637392.1:n.2149C>G (CLCN2)
ENST00000637538.1:c.392-49C>G (CLCN2)
ENST00000637909.1:c.892-49C>G (CLCN2)
ENST00000638134.1:c.894-49C>G (CLCN2)
ENST00000265593.8:c.1086-49C>G (CLCN2)	ENSP00000265593.4:n.1086-49C>G
ENST00000344937.11:c.1086-49C>G (CLCN2)	ENSP00000345056.7:n.1086-49C>G
ENST00000430397.5:c.29-49C>G (CLCN2)
ENST00000434054.6:c.954-49C>G (CLCN2)	ENSP00000400425.2:n.954-49C>G
ENST00000444495.1:c.2106+211120G>C (EIF2B5)	ENSP00000409142.1:n.2106+211120G>C
ENST00000457512.1:c.1086-49C>G (CLCN2)	ENSP00000391928.1:n.1086-49C>G
ENST00000475279.1:n.55C>G (CLCN2)
ENST00000485667.1:n.1093-49C>G (CLCN2)
NM_001171087.2:c.1086-49C>G (CLCN2)	NP_001164558.1:n.1086-49C>G
NM_001171088.2:c.954-49C>G (CLCN2)	NP_001164559.1:n.954-49C>G
NM_001171089.2:c.1086-49C>G (CLCN2)	NP_001164560.1:n.1086-49C>G
NM_004366.5:c.1086-49C>G (CLCN2)	NP_004357.3:n.1086-49C>G
XM_006713489.1:c.1086-49C>G (CLCN2)	XP_006713552.1:n.1086-49C>G
XM_006713490.1:c.-122C>G (CLCN2)	XP_006713553.1:n.-122C>G
XM_011512401.1:c.1086-49C>G (CLCN2)	XP_011510703.1:n.1086-49C>G
XM_011512402.1:c.1086-49C>G (CLCN2)	XP_011510704.1:n.1086-49C>G
XM_006713490.2:c.-122C>G (CLCN2)	XP_006713553.1:n.-122C>G
XR_001740001.1:n.1210-49C>G (CLCN2)
XR_001740002.1:n.1210-49C>G (CLCN2)
NM_004366.6:c.1086-49C>G (CLCN2) MANE Select	NP_004357.3:n.1086-49C>G
NM_001171087.3:c.1086-49C>G (CLCN2)	NP_001164558.1:n.1086-49C>G
NM_001171088.3:c.954-49C>G (CLCN2)	NP_001164559.1:n.954-49C>G
NM_001171089.3:c.1086-49C>G (CLCN2)	NP_001164560.1:n.1086-49C>G