Canonical Allele Identifier: CA347638

Gene: CLCN2 EIF2B5

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184353275G>C , CM000665.2:g.184353275G>C	GRCh38
NC_000003.11:g.184071063G>C , CM000665.1:g.184071063G>C	GRCh37
NC_000003.10:g.185553757G>C	NCBI36
NG_016422.1:g.13329C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.2003C>G (CLCN2) MANE Select	ENSP00000265593.4:p.Thr668Ser
ENST00000636180.1:c.*901C>G (CLCN2)	ENSP00000490374.1:n.*901C>G
ENST00000636661.1:c.*2313C>G (CLCN2)	ENSP00000490764.1:n.*2313C>G
ENST00000637258.1:n.421C>G (CLCN2)
ENST00000637392.1:n.3545C>G (CLCN2)
ENST00000637538.1:c.1239C>G (CLCN2)
ENST00000637909.1:c.1809C>G (CLCN2)
ENST00000265593.8:c.2003C>G (CLCN2)	ENSP00000265593.4:p.Thr668Ser
ENST00000344937.11:c.1952C>G (CLCN2)	ENSP00000345056.7:p.Thr651Ser
ENST00000430397.5:c.870C>G (CLCN2)
ENST00000434054.6:c.1871C>G (CLCN2)	ENSP00000400425.2:p.Thr624Ser
ENST00000444495.1:c.2106+208568G>C (EIF2B5)	ENSP00000409142.1:n.2106+208568G>C
ENST00000457512.1:c.2003C>G (CLCN2)	ENSP00000391928.1:p.Thr668Ser
ENST00000491162.1:n.22C>G (CLCN2)
NM_001171087.2:c.1952C>G (CLCN2)	NP_001164558.1:p.Thr651Ser
NM_001171088.2:c.1871C>G (CLCN2)	NP_001164559.1:p.Thr624Ser
NM_001171089.2:c.2003C>G (CLCN2)	NP_001164560.1:p.Thr668Ser
NM_004366.5:c.2003C>G (CLCN2)	NP_004357.3:p.Thr668Ser
XM_006713489.1:c.2003C>G (CLCN2)	XP_006713552.1:p.Thr668Ser
XM_006713490.1:c.845C>G (CLCN2)	XP_006713553.1:p.Thr282Ser
XM_011512401.1:c.2003C>G (CLCN2)	XP_011510703.1:p.Thr668Ser
XM_006713490.2:c.845C>G (CLCN2)	XP_006713553.1:p.Thr282Ser
XR_001740001.1:n.2183C>G (CLCN2)
XR_001740002.1:n.2183C>G (CLCN2)
NM_004366.6:c.2003C>G (CLCN2) MANE Select	NP_004357.3:p.Thr668Ser
NM_001171087.3:c.1952C>G (CLCN2)	NP_001164558.1:p.Thr651Ser
NM_001171088.3:c.1871C>G (CLCN2)	NP_001164559.1:p.Thr624Ser
NM_001171089.3:c.2003C>G (CLCN2)	NP_001164560.1:p.Thr668Ser