Canonical Allele Identifier: CA2573332113

Gene: CLCN2 EIF2B5

Linked Data

• gnomAD v4: 3-184355499-ACAGGGTGAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355503_184355511del , CM000665.2:g.184355503_184355511del	GRCh38
NC_000003.11:g.184073291_184073299del , CM000665.1:g.184073291_184073299del	GRCh37
NC_000003.10:g.185555985_185555993del	NCBI36
NG_016422.1:g.11096_11104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1192_1200del (CLCN2) MANE Select	ENSP00000265593.4:p.Val398_Leu400del
ENST00000475279.2:c.574_582del (CLCN2)
ENST00000636180.1:c.*168_*176del (CLCN2)	ENSP00000490374.1:n.*168_*176del
ENST00000636241.1:c.1083_1091del (CLCN2)
ENST00000636492.1:c.1075_1083del (CLCN2)	ENSP00000490313.1:p.Val359_Leu361del
ENST00000636658.1:c.453_461del (CLCN2)
ENST00000636661.1:c.*1382_*1390del (CLCN2)	ENSP00000490764.1:n.*1382_*1390del
ENST00000637392.1:n.2468_2476del (CLCN2)
ENST00000637538.1:c.498_506del (CLCN2)
ENST00000637909.1:c.998_1006del (CLCN2)
ENST00000638134.1:c.1000_1008del (CLCN2)
ENST00000265593.8:c.1192_1200del (CLCN2)	ENSP00000265593.4:p.Val398_Leu400del
ENST00000344937.11:c.1192_1200del (CLCN2)	ENSP00000345056.7:p.Val398_Leu400del
ENST00000430397.5:c.135_143del (CLCN2)
ENST00000434054.6:c.1060_1068del (CLCN2)	ENSP00000400425.2:p.Val354_Leu356del
ENST00000444495.1:c.2106+210796_2106+210804del (EIF2B5)	ENSP00000409142.1:n.2106+210796_2106+210804del
ENST00000457512.1:c.1192_1200del (CLCN2)	ENSP00000391928.1:p.Val398_Leu400del
ENST00000475279.1:n.210_218del (CLCN2)
ENST00000485667.1:n.1199_1207del (CLCN2)
NM_001171087.2:c.1192_1200del (CLCN2)	NP_001164558.1:p.Val398_Leu400del
NM_001171088.2:c.1060_1068del (CLCN2)	NP_001164559.1:p.Val354_Leu356del
NM_001171089.2:c.1192_1200del (CLCN2)	NP_001164560.1:p.Val398_Leu400del
NM_004366.5:c.1192_1200del (CLCN2)	NP_004357.3:p.Val398_Leu400del
XM_006713489.1:c.1192_1200del (CLCN2)	XP_006713552.1:p.Val398_Leu400del
XM_006713490.1:c.34_42del (CLCN2)	XP_006713553.1:p.Val12_Leu14del
XM_011512401.1:c.1192_1200del (CLCN2)	XP_011510703.1:p.Val398_Leu400del
XM_011512402.1:c.1192_1200del (CLCN2)	XP_011510704.1:p.Val398_Leu400del
XM_006713490.2:c.34_42del (CLCN2)	XP_006713553.1:p.Val12_Leu14del
XR_001740001.1:n.1316_1324del (CLCN2)
XR_001740002.1:n.1316_1324del (CLCN2)
NM_004366.6:c.1192_1200del (CLCN2) MANE Select	NP_004357.3:p.Val398_Leu400del
NM_001171087.3:c.1192_1200del (CLCN2)	NP_001164558.1:p.Val398_Leu400del
NM_001171088.3:c.1060_1068del (CLCN2)	NP_001164559.1:p.Val354_Leu356del
NM_001171089.3:c.1192_1200del (CLCN2)	NP_001164560.1:p.Val398_Leu400del