Canonical Allele Identifier: CA355447154

Gene: CLCN2 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184069893C>A (hg19) ; chr3:g.184352105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184352105C>A , CM000665.2:g.184352105C>A	GRCh38
NC_000003.11:g.184069893C>A , CM000665.1:g.184069893C>A	GRCh37
NC_000003.10:g.185552587C>A	NCBI36
NG_016422.1:g.14499G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.2323G>T (CLCN2) MANE Select	ENSP00000265593.4:p.Glu775Ter
ENST00000636180.1:c.*1221G>T (CLCN2)	ENSP00000490374.1:n.*1221G>T
ENST00000636661.1:c.*2633G>T (CLCN2)	ENSP00000490764.1:n.*2633G>T
ENST00000637392.1:n.3865G>T (CLCN2)
ENST00000637909.1:c.2129G>T (CLCN2)
ENST00000265593.8:c.2323G>T (CLCN2)	ENSP00000265593.4:p.Glu775Ter
ENST00000344937.11:c.2272G>T (CLCN2)	ENSP00000345056.7:p.Glu758Ter
ENST00000430397.5:c.1177+188G>T (CLCN2)
ENST00000434054.6:c.2191G>T (CLCN2)	ENSP00000400425.2:p.Glu731Ter
ENST00000444495.1:c.2106+207398C>A (EIF2B5)	ENSP00000409142.1:n.2106+207398C>A
ENST00000457512.1:c.2323G>T (CLCN2)	ENSP00000391928.1:p.Glu775Ter
NM_001171087.2:c.2272G>T (CLCN2)	NP_001164558.1:p.Glu758Ter
NM_001171088.2:c.2191G>T (CLCN2)	NP_001164559.1:p.Glu731Ter
NM_001171089.2:c.2323G>T (CLCN2)	NP_001164560.1:p.Glu775Ter
NM_004366.5:c.2323G>T (CLCN2)	NP_004357.3:p.Glu775Ter
XM_006713489.1:c.2310+188G>T (CLCN2)	XP_006713552.1:n.2310+188G>T
XM_006713490.1:c.1165G>T (CLCN2)	XP_006713553.1:p.Glu389Ter
XM_011512401.1:c.2323G>T (CLCN2)	XP_011510703.1:p.Glu775Ter
XM_006713490.2:c.1165G>T (CLCN2)	XP_006713553.1:p.Glu389Ter
XR_001740001.1:n.2503G>T (CLCN2)
XR_001740002.1:n.2490+188G>T (CLCN2)
NM_004366.6:c.2323G>T (CLCN2) MANE Select	NP_004357.3:p.Glu775Ter
NM_001171087.3:c.2272G>T (CLCN2)	NP_001164558.1:p.Glu758Ter
NM_001171088.3:c.2191G>T (CLCN2)	NP_001164559.1:p.Glu731Ter
NM_001171089.3:c.2323G>T (CLCN2)	NP_001164560.1:p.Glu775Ter