Canonical Allele Identifier: CA2734454
Community Standard Title: NM_004366.6(CLCN2):c.602C>T (p.Pro201Leu)
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184357975G>A , CM000665.2:g.184357975G>A GRCh38
NC_000003.11:g.184075763G>A , CM000665.1:g.184075763G>A GRCh37
NC_000003.10:g.185558457G>A NCBI36
NG_016422.1:g.8629C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004366.6:c.602C>T (CLCN2) MANE Select NP_004357.3:p.Pro201Leu
ENST00000265593.9:c.602C>T (CLCN2) MANE Select ENSP00000265593.4:p.Pro201Leu
NM_001171087.2:c.602C>T (CLCN2) NP_001164558.1:p.Pro201Leu
NM_001171087.3:c.602C>T (CLCN2) NP_001164558.1:p.Pro201Leu
NM_001171088.2:c.470C>T (CLCN2) NP_001164559.1:p.Pro157Leu
NM_001171088.3:c.470C>T (CLCN2) NP_001164559.1:p.Pro157Leu
NM_001171089.2:c.602C>T (CLCN2) NP_001164560.1:p.Pro201Leu
NM_001171089.3:c.602C>T (CLCN2) NP_001164560.1:p.Pro201Leu
NM_004366.5:c.602C>T (CLCN2) NP_004357.3:p.Pro201Leu
ENST00000265593.8:c.602C>T (CLCN2) ENSP00000265593.4:p.Pro201Leu
ENST00000344937.11:c.602C>T (CLCN2) ENSP00000345056.7:p.Pro201Leu
ENST00000434054.6:c.470C>T (CLCN2) ENSP00000400425.2:p.Pro157Leu
ENST00000444495.1:c.2106+213268G>A (EIF2B5) ENSP00000409142.1:n.2106+213268G>A
ENST00000457512.1:c.602C>T (CLCN2) ENSP00000391928.1:p.Pro201Leu
ENST00000465231.1:n.598C>T (CLCN2)
ENST00000475279.2:c.75C>T (CLCN2)
ENST00000485667.1:n.609C>T (CLCN2)
ENST00000636180.1:c.602C>T (CLCN2) ENSP00000490374.1:p.Pro201Leu
ENST00000636241.1:c.571C>T (CLCN2)
ENST00000636492.1:c.485C>T (CLCN2) ENSP00000490313.1:p.Pro162Leu
ENST00000636661.1:c.602C>T (CLCN2) ENSP00000490764.1:p.Pro201Leu
ENST00000637392.1:n.578C>T (CLCN2)
ENST00000637909.1:c.310C>T (CLCN2)
ENST00000638134.1:c.567C>T (CLCN2)
XM_006713489.1:c.602C>T (CLCN2) XP_006713552.1:p.Pro201Leu
XM_006713490.2:c.-466C>T (CLCN2) XP_006713553.1:n.-466C>T
XM_011512401.1:c.602C>T (CLCN2) XP_011510703.1:p.Pro201Leu
XM_011512402.1:c.602C>T (CLCN2) XP_011510704.1:p.Pro201Leu
XR_001740001.1:n.726C>T (CLCN2)
XR_001740002.1:n.726C>T (CLCN2)