Canonical Allele Identifier: CA548411838

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs1217596296
• gnomAD v2: 3-184073509-A-AG
• gnomAD v4: 3-184355721-A-AG
• MyVariant Identifiers: chr3:g.184073509_184073510insG (hg19) ; chr3:g.184355721_184355722insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355727dup , CM000665.2:g.184355727dup	GRCh38
NC_000003.11:g.184073515dup , CM000665.1:g.184073515dup	GRCh37
NC_000003.10:g.185556209dup	NCBI36
NG_016422.1:g.10882dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1142dup (CLCN2) MANE Select	ENSP00000265593.4:p.Gly382TrpfsTer21
ENST00000475279.2:c.524dup (CLCN2)
ENST00000636180.1:c.*118dup (CLCN2)	ENSP00000490374.1:n.*118dup
ENST00000636241.1:c.1033dup (CLCN2)
ENST00000636492.1:c.1025dup (CLCN2)	ENSP00000490313.1:p.Gly343TrpfsTer21
ENST00000636658.1:c.403dup (CLCN2)
ENST00000636661.1:c.*1332dup (CLCN2)	ENSP00000490764.1:n.*1332dup
ENST00000637392.1:n.2254dup (CLCN2)
ENST00000637538.1:c.448dup (CLCN2)
ENST00000637909.1:c.948dup (CLCN2)
ENST00000638134.1:c.950dup (CLCN2)
ENST00000265593.8:c.1142dup (CLCN2)	ENSP00000265593.4:p.Gly382TrpfsTer21
ENST00000344937.11:c.1142dup (CLCN2)	ENSP00000345056.7:p.Gly382TrpfsTer21
ENST00000430397.5:c.85dup (CLCN2)
ENST00000434054.6:c.1010dup (CLCN2)	ENSP00000400425.2:p.Gly338TrpfsTer21
ENST00000444495.1:c.2106+211020dup (EIF2B5)	ENSP00000409142.1:n.2106+211020dup
ENST00000457512.1:c.1142dup (CLCN2)	ENSP00000391928.1:p.Gly382TrpfsTer21
ENST00000475279.1:n.160dup (CLCN2)
ENST00000485667.1:n.1149dup (CLCN2)
NM_001171087.2:c.1142dup (CLCN2)	NP_001164558.1:p.Gly382TrpfsTer21
NM_001171088.2:c.1010dup (CLCN2)	NP_001164559.1:p.Gly338TrpfsTer21
NM_001171089.2:c.1142dup (CLCN2)	NP_001164560.1:p.Gly382TrpfsTer21
NM_004366.5:c.1142dup (CLCN2)	NP_004357.3:p.Gly382TrpfsTer21
XM_006713489.1:c.1142dup (CLCN2)	XP_006713552.1:p.Gly382TrpfsTer21
XM_006713490.1:c.-17dup (CLCN2)	XP_006713553.1:n.-17dup
XM_011512401.1:c.1142dup (CLCN2)	XP_011510703.1:p.Gly382TrpfsTer21
XM_011512402.1:c.1142dup (CLCN2)	XP_011510704.1:p.Gly382TrpfsTer21
XM_006713490.2:c.-17dup (CLCN2)	XP_006713553.1:n.-17dup
XR_001740001.1:n.1266dup (CLCN2)
XR_001740002.1:n.1266dup (CLCN2)
NM_004366.6:c.1142dup (CLCN2) MANE Select	NP_004357.3:p.Gly382TrpfsTer21
NM_001171087.3:c.1142dup (CLCN2)	NP_001164558.1:p.Gly382TrpfsTer21
NM_001171088.3:c.1010dup (CLCN2)	NP_001164559.1:p.Gly338TrpfsTer21
NM_001171089.3:c.1142dup (CLCN2)	NP_001164560.1:p.Gly382TrpfsTer21