Canonical Allele Identifier: CA355458481
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

ClinVar Variation Id: 427066
dbSNP Id: rs1085307938

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184359124C>T , CM000665.2:g.184359124C>T GRCh38
NC_000003.11:g.184076912C>T , CM000665.1:g.184076912C>T GRCh37
NC_000003.10:g.185559606C>T NCBI36
NG_016422.1:g.7480G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265593.9:c.71G>A (CLCN2) MANE Select ENSP00000265593.4:p.Gly24Asp
ENST00000636180.1:c.71G>A (CLCN2) ENSP00000490374.1:p.Gly24Asp
ENST00000636241.1:c.40G>A (CLCN2)
ENST00000636661.1:c.71G>A (CLCN2) ENSP00000490764.1:p.Gly24Asp
ENST00000637392.1:n.47G>A (CLCN2)
ENST00000638134.1:c.36G>A (CLCN2)
ENST00000265593.8:c.71G>A (CLCN2) ENSP00000265593.4:p.Gly24Asp
ENST00000344937.11:c.71G>A (CLCN2) ENSP00000345056.7:p.Gly24Asp
ENST00000434054.6:c.71G>A (CLCN2) ENSP00000400425.2:p.Gly24Asp
ENST00000444495.1:c.2106+214417C>T (EIF2B5) ENSP00000409142.1:n.2106+214417C>T
ENST00000457512.1:c.71G>A (CLCN2) ENSP00000391928.1:p.Gly24Asp
ENST00000485667.1:n.78G>A (CLCN2)
NM_001171087.2:c.71G>A (CLCN2) NP_001164558.1:p.Gly24Asp
NM_001171088.2:c.71G>A (CLCN2) NP_001164559.1:p.Gly24Asp
NM_001171089.2:c.71G>A (CLCN2) NP_001164560.1:p.Gly24Asp
NM_004366.5:c.71G>A (CLCN2) NP_004357.3:p.Gly24Asp
XM_006713489.1:c.71G>A (CLCN2) XP_006713552.1:p.Gly24Asp
XM_011512401.1:c.71G>A (CLCN2) XP_011510703.1:p.Gly24Asp
XM_011512402.1:c.71G>A (CLCN2) XP_011510704.1:p.Gly24Asp
XR_001740001.1:n.195G>A (CLCN2)
XR_001740002.1:n.195G>A (CLCN2)
NM_004366.6:c.71G>A (CLCN2) MANE Select NP_004357.3:p.Gly24Asp
NM_001171087.3:c.71G>A (CLCN2) NP_001164558.1:p.Gly24Asp
NM_001171088.3:c.71G>A (CLCN2) NP_001164559.1:p.Gly24Asp
NM_001171089.3:c.71G>A (CLCN2) NP_001164560.1:p.Gly24Asp