Canonical Allele Identifier: CA355451919
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184355382G>C , CM000665.2:g.184355382G>C GRCh38
NC_000003.11:g.184073170G>C , CM000665.1:g.184073170G>C GRCh37
NC_000003.10:g.185555864G>C NCBI36
NG_016422.1:g.11222C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265593.9:c.1318C>G (CLCN2) MANE Select ENSP00000265593.4:p.Leu440Val
ENST00000475279.2:c.700C>G (CLCN2)
ENST00000636180.1:c.*294C>G (CLCN2) ENSP00000490374.1:n.*294C>G
ENST00000636241.1:c.1209C>G (CLCN2)
ENST00000636492.1:c.1201C>G (CLCN2) ENSP00000490313.1:p.Leu401Val
ENST00000636658.1:c.579C>G (CLCN2)
ENST00000636661.1:c.*1508C>G (CLCN2) ENSP00000490764.1:n.*1508C>G
ENST00000637392.1:n.2594C>G (CLCN2)
ENST00000637538.1:c.624C>G (CLCN2)
ENST00000637909.1:c.1124C>G (CLCN2)
ENST00000638134.1:c.1126C>G (CLCN2)
ENST00000265593.8:c.1318C>G (CLCN2) ENSP00000265593.4:p.Leu440Val
ENST00000344937.11:c.1318C>G (CLCN2) ENSP00000345056.7:p.Leu440Val
ENST00000430397.5:c.261C>G (CLCN2)
ENST00000434054.6:c.1186C>G (CLCN2) ENSP00000400425.2:p.Leu396Val
ENST00000444495.1:c.2106+210675G>C (EIF2B5) ENSP00000409142.1:n.2106+210675G>C
ENST00000457512.1:c.1318C>G (CLCN2) ENSP00000391928.1:p.Leu440Val
ENST00000485667.1:n.1325C>G (CLCN2)
NM_001171087.2:c.1318C>G (CLCN2) NP_001164558.1:p.Leu440Val
NM_001171088.2:c.1186C>G (CLCN2) NP_001164559.1:p.Leu396Val
NM_001171089.2:c.1318C>G (CLCN2) NP_001164560.1:p.Leu440Val
NM_004366.5:c.1318C>G (CLCN2) NP_004357.3:p.Leu440Val
XM_006713489.1:c.1318C>G (CLCN2) XP_006713552.1:p.Leu440Val
XM_006713490.1:c.160C>G (CLCN2) XP_006713553.1:p.Leu54Val
XM_011512401.1:c.1318C>G (CLCN2) XP_011510703.1:p.Leu440Val
XM_011512402.1:c.1318C>G (CLCN2) XP_011510704.1:p.Leu440Val
XM_006713490.2:c.160C>G (CLCN2) XP_006713553.1:p.Leu54Val
XR_001740001.1:n.1442C>G (CLCN2)
XR_001740002.1:n.1442C>G (CLCN2)
NM_004366.6:c.1318C>G (CLCN2) MANE Select NP_004357.3:p.Leu440Val
NM_001171087.3:c.1318C>G (CLCN2) NP_001164558.1:p.Leu440Val
NM_001171088.3:c.1186C>G (CLCN2) NP_001164559.1:p.Leu396Val
NM_001171089.3:c.1318C>G (CLCN2) NP_001164560.1:p.Leu440Val