Canonical Allele Identifier: CA437167537
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.184073315G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184355527G>T , CM000665.2:g.184355527G>T GRCh38
NC_000003.11:g.184073315G>T , CM000665.1:g.184073315G>T GRCh37
NC_000003.10:g.185556009G>T NCBI36
NG_016422.1:g.11077C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265593.9:c.1173C>A (CLCN2) MANE Select ENSP00000265593.4:p.Leu391=
ENST00000475279.2:c.555C>A (CLCN2)
ENST00000636180.1:c.*149C>A (CLCN2) ENSP00000490374.1:n.*149C>A
ENST00000636241.1:c.1064C>A (CLCN2)
ENST00000636492.1:c.1056C>A (CLCN2) ENSP00000490313.1:p.Leu352=
ENST00000636658.1:c.434C>A (CLCN2)
ENST00000636661.1:c.*1363C>A (CLCN2) ENSP00000490764.1:n.*1363C>A
ENST00000637392.1:n.2449C>A (CLCN2)
ENST00000637538.1:c.479C>A (CLCN2)
ENST00000637909.1:c.979C>A (CLCN2)
ENST00000638134.1:c.981C>A (CLCN2)
ENST00000265593.8:c.1173C>A (CLCN2) ENSP00000265593.4:p.Leu391=
ENST00000344937.11:c.1173C>A (CLCN2) ENSP00000345056.7:p.Leu391=
ENST00000430397.5:c.116C>A (CLCN2)
ENST00000434054.6:c.1041C>A (CLCN2) ENSP00000400425.2:p.Leu347=
ENST00000444495.1:c.2106+210820G>T (EIF2B5) ENSP00000409142.1:n.2106+210820G>T
ENST00000457512.1:c.1173C>A (CLCN2) ENSP00000391928.1:p.Leu391=
ENST00000475279.1:n.191C>A (CLCN2)
ENST00000485667.1:n.1180C>A (CLCN2)
NM_001171087.2:c.1173C>A (CLCN2) NP_001164558.1:p.Leu391=
NM_001171088.2:c.1041C>A (CLCN2) NP_001164559.1:p.Leu347=
NM_001171089.2:c.1173C>A (CLCN2) NP_001164560.1:p.Leu391=
NM_004366.5:c.1173C>A (CLCN2) NP_004357.3:p.Leu391=
XM_006713489.1:c.1173C>A (CLCN2) XP_006713552.1:p.Leu391=
XM_006713490.1:c.15C>A (CLCN2) XP_006713553.1:p.Leu5=
XM_011512401.1:c.1173C>A (CLCN2) XP_011510703.1:p.Leu391=
XM_011512402.1:c.1173C>A (CLCN2) XP_011510704.1:p.Leu391=
XM_006713490.2:c.15C>A (CLCN2) XP_006713553.1:p.Leu5=
XR_001740001.1:n.1297C>A (CLCN2)
XR_001740002.1:n.1297C>A (CLCN2)
NM_004366.6:c.1173C>A (CLCN2) MANE Select NP_004357.3:p.Leu391=
NM_001171087.3:c.1173C>A (CLCN2) NP_001164558.1:p.Leu391=
NM_001171088.3:c.1041C>A (CLCN2) NP_001164559.1:p.Leu347=
NM_001171089.3:c.1173C>A (CLCN2) NP_001164560.1:p.Leu391=