Canonical Allele Identifier: CA355453120

Gene: CLCN2 EIF2B5

Linked Data

• gnomAD v4: 3-184355523-G-A
• MyVariant Identifiers: chr3:g.184073311G>A (hg19) ; chr3:g.184355523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355523G>A , CM000665.2:g.184355523G>A	GRCh38
NC_000003.11:g.184073311G>A , CM000665.1:g.184073311G>A	GRCh37
NC_000003.10:g.185556005G>A	NCBI36
NG_016422.1:g.11081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1177C>T (CLCN2) MANE Select	ENSP00000265593.4:p.Gln393Ter
ENST00000475279.2:c.559C>T (CLCN2)
ENST00000636180.1:c.*153C>T (CLCN2)	ENSP00000490374.1:n.*153C>T
ENST00000636241.1:c.1068C>T (CLCN2)
ENST00000636492.1:c.1060C>T (CLCN2)	ENSP00000490313.1:p.Gln354Ter
ENST00000636658.1:c.438C>T (CLCN2)
ENST00000636661.1:c.*1367C>T (CLCN2)	ENSP00000490764.1:n.*1367C>T
ENST00000637392.1:n.2453C>T (CLCN2)
ENST00000637538.1:c.483C>T (CLCN2)
ENST00000637909.1:c.983C>T (CLCN2)
ENST00000638134.1:c.985C>T (CLCN2)
ENST00000265593.8:c.1177C>T (CLCN2)	ENSP00000265593.4:p.Gln393Ter
ENST00000344937.11:c.1177C>T (CLCN2)	ENSP00000345056.7:p.Gln393Ter
ENST00000430397.5:c.120C>T (CLCN2)
ENST00000434054.6:c.1045C>T (CLCN2)	ENSP00000400425.2:p.Gln349Ter
ENST00000444495.1:c.2106+210816G>A (EIF2B5)	ENSP00000409142.1:n.2106+210816G>A
ENST00000457512.1:c.1177C>T (CLCN2)	ENSP00000391928.1:p.Gln393Ter
ENST00000475279.1:n.195C>T (CLCN2)
ENST00000485667.1:n.1184C>T (CLCN2)
NM_001171087.2:c.1177C>T (CLCN2)	NP_001164558.1:p.Gln393Ter
NM_001171088.2:c.1045C>T (CLCN2)	NP_001164559.1:p.Gln349Ter
NM_001171089.2:c.1177C>T (CLCN2)	NP_001164560.1:p.Gln393Ter
NM_004366.5:c.1177C>T (CLCN2)	NP_004357.3:p.Gln393Ter
XM_006713489.1:c.1177C>T (CLCN2)	XP_006713552.1:p.Gln393Ter
XM_006713490.1:c.19C>T (CLCN2)	XP_006713553.1:p.Gln7Ter
XM_011512401.1:c.1177C>T (CLCN2)	XP_011510703.1:p.Gln393Ter
XM_011512402.1:c.1177C>T (CLCN2)	XP_011510704.1:p.Gln393Ter
XM_006713490.2:c.19C>T (CLCN2)	XP_006713553.1:p.Gln7Ter
XR_001740001.1:n.1301C>T (CLCN2)
XR_001740002.1:n.1301C>T (CLCN2)
NM_004366.6:c.1177C>T (CLCN2) MANE Select	NP_004357.3:p.Gln393Ter
NM_001171087.3:c.1177C>T (CLCN2)	NP_001164558.1:p.Gln393Ter
NM_001171088.3:c.1045C>T (CLCN2)	NP_001164559.1:p.Gln349Ter
NM_001171089.3:c.1177C>T (CLCN2)	NP_001164560.1:p.Gln393Ter