Canonical Allele Identifier: CA437167372

Gene: CLCN2 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184073195G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355407G>T , CM000665.2:g.184355407G>T	GRCh38
NC_000003.11:g.184073195G>T , CM000665.1:g.184073195G>T	GRCh37
NC_000003.10:g.185555889G>T	NCBI36
NG_016422.1:g.11197C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1293C>A (CLCN2) MANE Select	ENSP00000265593.4:p.Val431=
ENST00000475279.2:c.675C>A (CLCN2)
ENST00000636180.1:c.*269C>A (CLCN2)	ENSP00000490374.1:n.*269C>A
ENST00000636241.1:c.1184C>A (CLCN2)
ENST00000636492.1:c.1176C>A (CLCN2)	ENSP00000490313.1:p.Val392=
ENST00000636658.1:c.554C>A (CLCN2)
ENST00000636661.1:c.*1483C>A (CLCN2)	ENSP00000490764.1:n.*1483C>A
ENST00000637392.1:n.2569C>A (CLCN2)
ENST00000637538.1:c.599C>A (CLCN2)
ENST00000637909.1:c.1099C>A (CLCN2)
ENST00000638134.1:c.1101C>A (CLCN2)
ENST00000265593.8:c.1293C>A (CLCN2)	ENSP00000265593.4:p.Val431=
ENST00000344937.11:c.1293C>A (CLCN2)	ENSP00000345056.7:p.Val431=
ENST00000430397.5:c.236C>A (CLCN2)
ENST00000434054.6:c.1161C>A (CLCN2)	ENSP00000400425.2:p.Val387=
ENST00000444495.1:c.2106+210700G>T (EIF2B5)	ENSP00000409142.1:n.2106+210700G>T
ENST00000457512.1:c.1293C>A (CLCN2)	ENSP00000391928.1:p.Val431=
ENST00000475279.1:n.311C>A (CLCN2)
ENST00000485667.1:n.1300C>A (CLCN2)
NM_001171087.2:c.1293C>A (CLCN2)	NP_001164558.1:p.Val431=
NM_001171088.2:c.1161C>A (CLCN2)	NP_001164559.1:p.Val387=
NM_001171089.2:c.1293C>A (CLCN2)	NP_001164560.1:p.Val431=
NM_004366.5:c.1293C>A (CLCN2)	NP_004357.3:p.Val431=
XM_006713489.1:c.1293C>A (CLCN2)	XP_006713552.1:p.Val431=
XM_006713490.1:c.135C>A (CLCN2)	XP_006713553.1:p.Val45=
XM_011512401.1:c.1293C>A (CLCN2)	XP_011510703.1:p.Val431=
XM_011512402.1:c.1293C>A (CLCN2)	XP_011510704.1:p.Val431=
XM_006713490.2:c.135C>A (CLCN2)	XP_006713553.1:p.Val45=
XR_001740001.1:n.1417C>A (CLCN2)
XR_001740002.1:n.1417C>A (CLCN2)
NM_004366.6:c.1293C>A (CLCN2) MANE Select	NP_004357.3:p.Val431=
NM_001171087.3:c.1293C>A (CLCN2)	NP_001164558.1:p.Val431=
NM_001171088.3:c.1161C>A (CLCN2)	NP_001164559.1:p.Val387=
NM_001171089.3:c.1293C>A (CLCN2)	NP_001164560.1:p.Val431=