Canonical Allele Identifier: CA437167602
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.184073523G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184355735G>A , CM000665.2:g.184355735G>A GRCh38
NC_000003.11:g.184073523G>A , CM000665.1:g.184073523G>A GRCh37
NC_000003.10:g.185556217G>A NCBI36
NG_016422.1:g.10869C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265593.9:c.1129C>T (CLCN2) MANE Select ENSP00000265593.4:p.Leu377=
ENST00000475279.2:c.511C>T (CLCN2)
ENST00000636180.1:c.*105C>T (CLCN2) ENSP00000490374.1:n.*105C>T
ENST00000636241.1:c.1020C>T (CLCN2)
ENST00000636492.1:c.1012C>T (CLCN2) ENSP00000490313.1:p.Leu338=
ENST00000636658.1:c.390C>T (CLCN2)
ENST00000636661.1:c.*1319C>T (CLCN2) ENSP00000490764.1:n.*1319C>T
ENST00000637392.1:n.2241C>T (CLCN2)
ENST00000637538.1:c.435C>T (CLCN2)
ENST00000637909.1:c.935C>T (CLCN2)
ENST00000638134.1:c.937C>T (CLCN2)
ENST00000265593.8:c.1129C>T (CLCN2) ENSP00000265593.4:p.Leu377=
ENST00000344937.11:c.1129C>T (CLCN2) ENSP00000345056.7:p.Leu377=
ENST00000430397.5:c.72C>T (CLCN2)
ENST00000434054.6:c.997C>T (CLCN2) ENSP00000400425.2:p.Leu333=
ENST00000444495.1:c.2106+211028G>A (EIF2B5) ENSP00000409142.1:n.2106+211028G>A
ENST00000457512.1:c.1129C>T (CLCN2) ENSP00000391928.1:p.Leu377=
ENST00000475279.1:n.147C>T (CLCN2)
ENST00000485667.1:n.1136C>T (CLCN2)
NM_001171087.2:c.1129C>T (CLCN2) NP_001164558.1:p.Leu377=
NM_001171088.2:c.997C>T (CLCN2) NP_001164559.1:p.Leu333=
NM_001171089.2:c.1129C>T (CLCN2) NP_001164560.1:p.Leu377=
NM_004366.5:c.1129C>T (CLCN2) NP_004357.3:p.Leu377=
XM_006713489.1:c.1129C>T (CLCN2) XP_006713552.1:p.Leu377=
XM_006713490.1:c.-30C>T (CLCN2) XP_006713553.1:n.-30C>T
XM_011512401.1:c.1129C>T (CLCN2) XP_011510703.1:p.Leu377=
XM_011512402.1:c.1129C>T (CLCN2) XP_011510704.1:p.Leu377=
XM_006713490.2:c.-30C>T (CLCN2) XP_006713553.1:n.-30C>T
XR_001740001.1:n.1253C>T (CLCN2)
XR_001740002.1:n.1253C>T (CLCN2)
NM_004366.6:c.1129C>T (CLCN2) MANE Select NP_004357.3:p.Leu377=
NM_001171087.3:c.1129C>T (CLCN2) NP_001164558.1:p.Leu377=
NM_001171088.3:c.997C>T (CLCN2) NP_001164559.1:p.Leu333=
NM_001171089.3:c.1129C>T (CLCN2) NP_001164560.1:p.Leu377=