Canonical Allele Identifier: CA2668842740

Gene: CLCN2 EIF2B5

Linked Data

• gnomAD v4: 3-184355619-T-TGTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355619_184355620insGTGA , CM000665.2:g.184355619_184355620insGTGA	GRCh38
NC_000003.11:g.184073407_184073408insGTGA , CM000665.1:g.184073407_184073408insGTGA	GRCh37
NC_000003.10:g.185556101_185556102insGTGA	NCBI36
NG_016422.1:g.10984_10985insTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1170+74_1170+75insTCAC (CLCN2) MANE Select	ENSP00000265593.4:n.1170+74_1170+75insTCAC
ENST00000475279.2:c.552+74_552+75insTCAC (CLCN2)
ENST00000636180.1:c.*146+74_*146+75insTCAC (CLCN2)	ENSP00000490374.1:n.*146+74_*146+75insTCAC
ENST00000636241.1:c.1061+74_1061+75insTCAC (CLCN2)
ENST00000636492.1:c.1053+74_1053+75insTCAC (CLCN2)	ENSP00000490313.1:n.1053+74_1053+75insTCAC
ENST00000636658.1:c.431+74_431+75insTCAC (CLCN2)
ENST00000636661.1:c.*1360+74_*1360+75insTCAC (CLCN2)	ENSP00000490764.1:n.*1360+74_*1360+75insTCAC
ENST00000637392.1:n.2356_2357insTCAC (CLCN2)
ENST00000637538.1:c.476+74_476+75insTCAC (CLCN2)
ENST00000637909.1:c.976+74_976+75insTCAC (CLCN2)
ENST00000638134.1:c.978+74_978+75insTCAC (CLCN2)
ENST00000265593.8:c.1170+74_1170+75insTCAC (CLCN2)	ENSP00000265593.4:n.1170+74_1170+75insTCAC
ENST00000344937.11:c.1170+74_1170+75insTCAC (CLCN2)	ENSP00000345056.7:n.1170+74_1170+75insTCAC
ENST00000430397.5:c.113+74_113+75insTCAC (CLCN2)
ENST00000434054.6:c.1038+74_1038+75insTCAC (CLCN2)	ENSP00000400425.2:n.1038+74_1038+75insTCAC
ENST00000444495.1:c.2106+210912_2106+210913insGTGA (EIF2B5)	ENSP00000409142.1:n.2106+210912_2106+210913insGTGA
ENST00000457512.1:c.1170+74_1170+75insTCAC (CLCN2)	ENSP00000391928.1:n.1170+74_1170+75insTCAC
ENST00000475279.1:n.188+74_188+75insTCAC (CLCN2)
ENST00000485667.1:n.1177+74_1177+75insTCAC (CLCN2)
NM_001171087.2:c.1170+74_1170+75insTCAC (CLCN2)	NP_001164558.1:n.1170+74_1170+75insTCAC
NM_001171088.2:c.1038+74_1038+75insTCAC (CLCN2)	NP_001164559.1:n.1038+74_1038+75insTCAC
NM_001171089.2:c.1170+74_1170+75insTCAC (CLCN2)	NP_001164560.1:n.1170+74_1170+75insTCAC
NM_004366.5:c.1170+74_1170+75insTCAC (CLCN2)	NP_004357.3:n.1170+74_1170+75insTCAC
XM_006713489.1:c.1170+74_1170+75insTCAC (CLCN2)	XP_006713552.1:n.1170+74_1170+75insTCAC
XM_006713490.1:c.12+74_12+75insTCAC (CLCN2)	XP_006713553.1:n.12+74_12+75insTCAC
XM_011512401.1:c.1170+74_1170+75insTCAC (CLCN2)	XP_011510703.1:n.1170+74_1170+75insTCAC
XM_011512402.1:c.1170+74_1170+75insTCAC (CLCN2)	XP_011510704.1:n.1170+74_1170+75insTCAC
XM_006713490.2:c.12+74_12+75insTCAC (CLCN2)	XP_006713553.1:n.12+74_12+75insTCAC
XR_001740001.1:n.1294+74_1294+75insTCAC (CLCN2)
XR_001740002.1:n.1294+74_1294+75insTCAC (CLCN2)
NM_004366.6:c.1170+74_1170+75insTCAC (CLCN2) MANE Select	NP_004357.3:n.1170+74_1170+75insTCAC
NM_001171087.3:c.1170+74_1170+75insTCAC (CLCN2)	NP_001164558.1:n.1170+74_1170+75insTCAC
NM_001171088.3:c.1038+74_1038+75insTCAC (CLCN2)	NP_001164559.1:n.1038+74_1038+75insTCAC
NM_001171089.3:c.1170+74_1170+75insTCAC (CLCN2)	NP_001164560.1:n.1170+74_1170+75insTCAC