Canonical Allele Identifier: CA548796230

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs1461164794
• gnomAD v2: 3-184073393-A-C
• gnomAD v3: 3-184355605-A-C
• gnomAD v4: 3-184355605-A-C
• MyVariant Identifiers: chr3:g.184073393A>C (hg19) ; chr3:g.184355605A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355605A>C , CM000665.2:g.184355605A>C	GRCh38
NC_000003.11:g.184073393A>C , CM000665.1:g.184073393A>C	GRCh37
NC_000003.10:g.185556087A>C	NCBI36
NG_016422.1:g.10999T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1171-76T>G (CLCN2) MANE Select	ENSP00000265593.4:n.1171-76T>G
ENST00000475279.2:c.553-76T>G (CLCN2)
ENST00000636180.1:c.*147-76T>G (CLCN2)	ENSP00000490374.1:n.*147-76T>G
ENST00000636241.1:c.1062-76T>G (CLCN2)
ENST00000636492.1:c.1054-76T>G (CLCN2)	ENSP00000490313.1:n.1054-76T>G
ENST00000636658.1:c.432-76T>G (CLCN2)
ENST00000636661.1:c.*1361-76T>G (CLCN2)	ENSP00000490764.1:n.*1361-76T>G
ENST00000637392.1:n.2371T>G (CLCN2)
ENST00000637538.1:c.477-76T>G (CLCN2)
ENST00000637909.1:c.977-76T>G (CLCN2)
ENST00000638134.1:c.979-76T>G (CLCN2)
ENST00000265593.8:c.1171-76T>G (CLCN2)	ENSP00000265593.4:n.1171-76T>G
ENST00000344937.11:c.1171-76T>G (CLCN2)	ENSP00000345056.7:n.1171-76T>G
ENST00000430397.5:c.114-76T>G (CLCN2)
ENST00000434054.6:c.1039-76T>G (CLCN2)	ENSP00000400425.2:n.1039-76T>G
ENST00000444495.1:c.2106+210898A>C (EIF2B5)	ENSP00000409142.1:n.2106+210898A>C
ENST00000457512.1:c.1171-76T>G (CLCN2)	ENSP00000391928.1:n.1171-76T>G
ENST00000475279.1:n.189-76T>G (CLCN2)
ENST00000485667.1:n.1178-76T>G (CLCN2)
NM_001171087.2:c.1171-76T>G (CLCN2)	NP_001164558.1:n.1171-76T>G
NM_001171088.2:c.1039-76T>G (CLCN2)	NP_001164559.1:n.1039-76T>G
NM_001171089.2:c.1171-76T>G (CLCN2)	NP_001164560.1:n.1171-76T>G
NM_004366.5:c.1171-76T>G (CLCN2)	NP_004357.3:n.1171-76T>G
XM_006713489.1:c.1171-76T>G (CLCN2)	XP_006713552.1:n.1171-76T>G
XM_006713490.1:c.13-76T>G (CLCN2)	XP_006713553.1:n.13-76T>G
XM_011512401.1:c.1171-76T>G (CLCN2)	XP_011510703.1:n.1171-76T>G
XM_011512402.1:c.1171-76T>G (CLCN2)	XP_011510704.1:n.1171-76T>G
XM_006713490.2:c.13-76T>G (CLCN2)	XP_006713553.1:n.13-76T>G
XR_001740001.1:n.1295-76T>G (CLCN2)
XR_001740002.1:n.1295-76T>G (CLCN2)
NM_004366.6:c.1171-76T>G (CLCN2) MANE Select	NP_004357.3:n.1171-76T>G
NM_001171087.3:c.1171-76T>G (CLCN2)	NP_001164558.1:n.1171-76T>G
NM_001171088.3:c.1039-76T>G (CLCN2)	NP_001164559.1:n.1039-76T>G
NM_001171089.3:c.1171-76T>G (CLCN2)	NP_001164560.1:n.1171-76T>G