Canonical Allele Identifier: CA347604

Gene: CLCN2 EIF2B5

Linked Data

• ClinVar Variation Id: 217785
• ClinVar RCV Id: RCV000201803
• dbSNP Id: rs863225250
• gnomAD v2: 3-184075028-G-A
• gnomAD v3: 3-184357240-G-A
• gnomAD v4: 3-184357240-G-A
• MyVariant Identifiers: chr3:g.184075028G>A (hg19) ; chr3:g.184357240G>A (hg38)
• PubMed: PMID:26539602

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184357240G>A , CM000665.2:g.184357240G>A	GRCh38
NC_000003.11:g.184075028G>A , CM000665.1:g.184075028G>A	GRCh37
NC_000003.10:g.185557722G>A	NCBI36
NG_016422.1:g.9364C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265593.9:c.925C>T (CLCN2) MANE Select	ENSP00000265593.4:p.Arg309Ter
ENST00000475279.2:c.241C>T (CLCN2)
ENST00000636180.1:c.768C>T (CLCN2)	ENSP00000490374.1:p.Pro256=
ENST00000636241.1:c.816C>T (CLCN2)
ENST00000636492.1:c.808C>T (CLCN2)	ENSP00000490313.1:p.Arg270Ter
ENST00000636658.1:c.230C>T (CLCN2)
ENST00000636661.1:c.768C>T (CLCN2)	ENSP00000490764.1:p.Pro256=
ENST00000636860.1:n.221C>T (CLCN2)
ENST00000637392.1:n.823C>T (CLCN2)
ENST00000637538.1:c.231C>T (CLCN2)
ENST00000637909.1:c.633C>T (CLCN2)
ENST00000638134.1:c.733C>T (CLCN2)
ENST00000265593.8:c.925C>T (CLCN2)	ENSP00000265593.4:p.Arg309Ter
ENST00000344937.11:c.925C>T (CLCN2)	ENSP00000345056.7:p.Arg309Ter
ENST00000434054.6:c.793C>T (CLCN2)	ENSP00000400425.2:p.Arg265Ter
ENST00000444495.1:c.2106+212533G>A (EIF2B5)	ENSP00000409142.1:n.2106+212533G>A
ENST00000457512.1:c.925C>T (CLCN2)	ENSP00000391928.1:p.Arg309Ter
ENST00000485667.1:n.932C>T (CLCN2)
NM_001171087.2:c.925C>T (CLCN2)	NP_001164558.1:p.Arg309Ter
NM_001171088.2:c.793C>T (CLCN2)	NP_001164559.1:p.Arg265Ter
NM_001171089.2:c.925C>T (CLCN2)	NP_001164560.1:p.Arg309Ter
NM_004366.5:c.925C>T (CLCN2)	NP_004357.3:p.Arg309Ter
XM_006713489.1:c.925C>T (CLCN2)	XP_006713552.1:p.Arg309Ter
XM_011512401.1:c.925C>T (CLCN2)	XP_011510703.1:p.Arg309Ter
XM_011512402.1:c.925C>T (CLCN2)	XP_011510704.1:p.Arg309Ter
XM_006713490.2:c.-300C>T (CLCN2)	XP_006713553.1:n.-300C>T
XR_001740001.1:n.1049C>T (CLCN2)
XR_001740002.1:n.1049C>T (CLCN2)
NM_004366.6:c.925C>T (CLCN2) MANE Select	NP_004357.3:p.Arg309Ter
NM_001171087.3:c.925C>T (CLCN2)	NP_001164558.1:p.Arg309Ter
NM_001171088.3:c.793C>T (CLCN2)	NP_001164559.1:p.Arg265Ter
NM_001171089.3:c.925C>T (CLCN2)	NP_001164560.1:p.Arg309Ter