Canonical Allele Identifier: CA347661
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184352324G>A , CM000665.2:g.184352324G>A GRCh38
NC_000003.11:g.184070112G>A , CM000665.1:g.184070112G>A GRCh37
NC_000003.10:g.185552806G>A NCBI36
NG_016422.1:g.14280C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004366.6:c.2279C>T (CLCN2) MANE Select NP_004357.3:p.Ala760Val
ENST00000265593.9:c.2279C>T (CLCN2) MANE Select ENSP00000265593.4:p.Ala760Val
NM_001171087.2:c.2228C>T (CLCN2) NP_001164558.1:p.Ala743Val
NM_001171087.3:c.2228C>T (CLCN2) NP_001164558.1:p.Ala743Val
NM_001171088.2:c.2147C>T (CLCN2) NP_001164559.1:p.Ala716Val
NM_001171088.3:c.2147C>T (CLCN2) NP_001164559.1:p.Ala716Val
NM_001171089.2:c.2279C>T (CLCN2) NP_001164560.1:p.Ala760Val
NM_001171089.3:c.2279C>T (CLCN2) NP_001164560.1:p.Ala760Val
NM_004366.5:c.2279C>T (CLCN2) NP_004357.3:p.Ala760Val
ENST00000265593.8:c.2279C>T (CLCN2) ENSP00000265593.4:p.Ala760Val
ENST00000344937.11:c.2228C>T (CLCN2) ENSP00000345056.7:p.Ala743Val
ENST00000430397.5:c.1146C>T (CLCN2)
ENST00000434054.6:c.2147C>T (CLCN2) ENSP00000400425.2:p.Ala716Val
ENST00000444495.1:c.2106+207617G>A (EIF2B5) ENSP00000409142.1:n.2106+207617G>A
ENST00000457512.1:c.2279C>T (CLCN2) ENSP00000391928.1:p.Ala760Val
ENST00000636180.1:c.*1177C>T (CLCN2) ENSP00000490374.1:n.*1177C>T
ENST00000636661.1:c.*2589C>T (CLCN2) ENSP00000490764.1:n.*2589C>T
ENST00000637392.1:n.3821C>T (CLCN2)
ENST00000637538.1:c.1515C>T (CLCN2)
ENST00000637909.1:c.2085C>T (CLCN2)
XM_006713489.1:c.2279C>T (CLCN2) XP_006713552.1:p.Ala760Val
XM_006713490.1:c.1121C>T (CLCN2) XP_006713553.1:p.Ala374Val
XM_006713490.2:c.1121C>T (CLCN2) XP_006713553.1:p.Ala374Val
XM_011512401.1:c.2279C>T (CLCN2) XP_011510703.1:p.Ala760Val
XR_001740001.1:n.2459C>T (CLCN2)
XR_001740002.1:n.2459C>T (CLCN2)