Canonical Allele Identifier: CA437167453
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.184073255C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184355467C>A , CM000665.2:g.184355467C>A GRCh38
NC_000003.11:g.184073255C>A , CM000665.1:g.184073255C>A GRCh37
NC_000003.10:g.185555949C>A NCBI36
NG_016422.1:g.11137G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265593.9:c.1233G>T (CLCN2) MANE Select ENSP00000265593.4:p.Leu411=
ENST00000475279.2:c.615G>T (CLCN2)
ENST00000636180.1:c.*209G>T (CLCN2) ENSP00000490374.1:n.*209G>T
ENST00000636241.1:c.1124G>T (CLCN2)
ENST00000636492.1:c.1116G>T (CLCN2) ENSP00000490313.1:p.Leu372=
ENST00000636658.1:c.494G>T (CLCN2)
ENST00000636661.1:c.*1423G>T (CLCN2) ENSP00000490764.1:n.*1423G>T
ENST00000637392.1:n.2509G>T (CLCN2)
ENST00000637538.1:c.539G>T (CLCN2)
ENST00000637909.1:c.1039G>T (CLCN2)
ENST00000638134.1:c.1041G>T (CLCN2)
ENST00000265593.8:c.1233G>T (CLCN2) ENSP00000265593.4:p.Leu411=
ENST00000344937.11:c.1233G>T (CLCN2) ENSP00000345056.7:p.Leu411=
ENST00000430397.5:c.176G>T (CLCN2)
ENST00000434054.6:c.1101G>T (CLCN2) ENSP00000400425.2:p.Leu367=
ENST00000444495.1:c.2106+210760C>A (EIF2B5) ENSP00000409142.1:n.2106+210760C>A
ENST00000457512.1:c.1233G>T (CLCN2) ENSP00000391928.1:p.Leu411=
ENST00000475279.1:n.251G>T (CLCN2)
ENST00000485667.1:n.1240G>T (CLCN2)
NM_001171087.2:c.1233G>T (CLCN2) NP_001164558.1:p.Leu411=
NM_001171088.2:c.1101G>T (CLCN2) NP_001164559.1:p.Leu367=
NM_001171089.2:c.1233G>T (CLCN2) NP_001164560.1:p.Leu411=
NM_004366.5:c.1233G>T (CLCN2) NP_004357.3:p.Leu411=
XM_006713489.1:c.1233G>T (CLCN2) XP_006713552.1:p.Leu411=
XM_006713490.1:c.75G>T (CLCN2) XP_006713553.1:p.Leu25=
XM_011512401.1:c.1233G>T (CLCN2) XP_011510703.1:p.Leu411=
XM_011512402.1:c.1233G>T (CLCN2) XP_011510704.1:p.Leu411=
XM_006713490.2:c.75G>T (CLCN2) XP_006713553.1:p.Leu25=
XR_001740001.1:n.1357G>T (CLCN2)
XR_001740002.1:n.1357G>T (CLCN2)
NM_004366.6:c.1233G>T (CLCN2) MANE Select NP_004357.3:p.Leu411=
NM_001171087.3:c.1233G>T (CLCN2) NP_001164558.1:p.Leu411=
NM_001171088.3:c.1101G>T (CLCN2) NP_001164559.1:p.Leu367=
NM_001171089.3:c.1233G>T (CLCN2) NP_001164560.1:p.Leu411=