Canonical Allele Identifier: CA903717574

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs1373721843
• gnomAD v4: 3-184355806-TG-T
• MyVariant Identifiers: chr3:g.184073595del (hg19) ; chr3:g.184355807del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355809del , CM000665.2:g.184355809del	GRCh38
NC_000003.11:g.184073597del , CM000665.1:g.184073597del	GRCh37
NC_000003.10:g.185556291del	NCBI36
NG_016422.1:g.10797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1086-29del (CLCN2) MANE Select	ENSP00000265593.4:n.1086-29del
ENST00000475279.2:c.439del (CLCN2)
ENST00000636180.1:c.*62-29del (CLCN2)	ENSP00000490374.1:n.*62-29del
ENST00000636241.1:c.977-29del (CLCN2)
ENST00000636492.1:c.969-29del (CLCN2)	ENSP00000490313.1:n.969-29del
ENST00000636658.1:c.347-29del (CLCN2)
ENST00000636661.1:c.*1247del (CLCN2)	ENSP00000490764.1:n.*1247del
ENST00000637392.1:n.2169del (CLCN2)
ENST00000637538.1:c.392-29del (CLCN2)
ENST00000637909.1:c.892-29del (CLCN2)
ENST00000638134.1:c.894-29del (CLCN2)
ENST00000265593.8:c.1086-29del (CLCN2)	ENSP00000265593.4:n.1086-29del
ENST00000344937.11:c.1086-29del (CLCN2)	ENSP00000345056.7:n.1086-29del
ENST00000430397.5:c.29-29del (CLCN2)
ENST00000434054.6:c.954-29del (CLCN2)	ENSP00000400425.2:n.954-29del
ENST00000444495.1:c.2106+211102del (EIF2B5)	ENSP00000409142.1:n.2106+211102del
ENST00000457512.1:c.1086-29del (CLCN2)	ENSP00000391928.1:n.1086-29del
ENST00000475279.1:n.75del (CLCN2)
ENST00000485667.1:n.1093-29del (CLCN2)
NM_001171087.2:c.1086-29del (CLCN2)	NP_001164558.1:n.1086-29del
NM_001171088.2:c.954-29del (CLCN2)	NP_001164559.1:n.954-29del
NM_001171089.2:c.1086-29del (CLCN2)	NP_001164560.1:n.1086-29del
NM_004366.5:c.1086-29del (CLCN2)	NP_004357.3:n.1086-29del
XM_006713489.1:c.1086-29del (CLCN2)	XP_006713552.1:n.1086-29del
XM_006713490.1:c.-102del (CLCN2)	XP_006713553.1:n.-102del
XM_011512401.1:c.1086-29del (CLCN2)	XP_011510703.1:n.1086-29del
XM_011512402.1:c.1086-29del (CLCN2)	XP_011510704.1:n.1086-29del
XM_006713490.2:c.-102del (CLCN2)	XP_006713553.1:n.-102del
XR_001740001.1:n.1210-29del (CLCN2)
XR_001740002.1:n.1210-29del (CLCN2)
NM_004366.6:c.1086-29del (CLCN2) MANE Select	NP_004357.3:n.1086-29del
NM_001171087.3:c.1086-29del (CLCN2)	NP_001164558.1:n.1086-29del
NM_001171088.3:c.954-29del (CLCN2)	NP_001164559.1:n.954-29del
NM_001171089.3:c.1086-29del (CLCN2)	NP_001164560.1:n.1086-29del