Canonical Allele Identifier: CA355447036

Gene: CLCN2 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184069868A>C (hg19) ; chr3:g.184352080A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184352080A>C , CM000665.2:g.184352080A>C	GRCh38
NC_000003.11:g.184069868A>C , CM000665.1:g.184069868A>C	GRCh37
NC_000003.10:g.185552562A>C	NCBI36
NG_016422.1:g.14524T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.2348T>G (CLCN2) MANE Select	ENSP00000265593.4:p.Val783Gly
ENST00000636180.1:c.*1246T>G (CLCN2)	ENSP00000490374.1:n.*1246T>G
ENST00000636661.1:c.*2658T>G (CLCN2)	ENSP00000490764.1:n.*2658T>G
ENST00000637392.1:n.3890T>G (CLCN2)
ENST00000637909.1:c.2154T>G (CLCN2)
ENST00000265593.8:c.2348T>G (CLCN2)	ENSP00000265593.4:p.Val783Gly
ENST00000344937.11:c.2297T>G (CLCN2)	ENSP00000345056.7:p.Val766Gly
ENST00000430397.5:c.1177+213T>G (CLCN2)
ENST00000434054.6:c.2216T>G (CLCN2)	ENSP00000400425.2:p.Val739Gly
ENST00000444495.1:c.2106+207373A>C (EIF2B5)	ENSP00000409142.1:n.2106+207373A>C
ENST00000457512.1:c.2348T>G (CLCN2)	ENSP00000391928.1:p.Val783Gly
NM_001171087.2:c.2297T>G (CLCN2)	NP_001164558.1:p.Val766Gly
NM_001171088.2:c.2216T>G (CLCN2)	NP_001164559.1:p.Val739Gly
NM_001171089.2:c.2348T>G (CLCN2)	NP_001164560.1:p.Val783Gly
NM_004366.5:c.2348T>G (CLCN2)	NP_004357.3:p.Val783Gly
XM_006713489.1:c.2310+213T>G (CLCN2)	XP_006713552.1:n.2310+213T>G
XM_006713490.1:c.1190T>G (CLCN2)	XP_006713553.1:p.Val397Gly
XM_011512401.1:c.2348T>G (CLCN2)	XP_011510703.1:p.Val783Gly
XM_006713490.2:c.1190T>G (CLCN2)	XP_006713553.1:p.Val397Gly
XR_001740001.1:n.2528T>G (CLCN2)
XR_001740002.1:n.2490+213T>G (CLCN2)
NM_004366.6:c.2348T>G (CLCN2) MANE Select	NP_004357.3:p.Val783Gly
NM_001171087.3:c.2297T>G (CLCN2)	NP_001164558.1:p.Val766Gly
NM_001171088.3:c.2216T>G (CLCN2)	NP_001164559.1:p.Val739Gly
NM_001171089.3:c.2348T>G (CLCN2)	NP_001164560.1:p.Val783Gly