Canonical Allele Identifier: CA355453626

Gene: CLCN2 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184073552G>T (hg19) ; chr3:g.184355764G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355764G>T , CM000665.2:g.184355764G>T	GRCh38
NC_000003.11:g.184073552G>T , CM000665.1:g.184073552G>T	GRCh37
NC_000003.10:g.185556246G>T	NCBI36
NG_016422.1:g.10840C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1100C>A (CLCN2) MANE Select	ENSP00000265593.4:p.Pro367Gln
ENST00000475279.2:c.482C>A (CLCN2)
ENST00000636180.1:c.*76C>A (CLCN2)	ENSP00000490374.1:n.*76C>A
ENST00000636241.1:c.991C>A (CLCN2)
ENST00000636492.1:c.983C>A (CLCN2)	ENSP00000490313.1:p.Pro328Gln
ENST00000636658.1:c.361C>A (CLCN2)
ENST00000636661.1:c.*1290C>A (CLCN2)	ENSP00000490764.1:n.*1290C>A
ENST00000637392.1:n.2212C>A (CLCN2)
ENST00000637538.1:c.406C>A (CLCN2)
ENST00000637909.1:c.906C>A (CLCN2)
ENST00000638134.1:c.908C>A (CLCN2)
ENST00000265593.8:c.1100C>A (CLCN2)	ENSP00000265593.4:p.Pro367Gln
ENST00000344937.11:c.1100C>A (CLCN2)	ENSP00000345056.7:p.Pro367Gln
ENST00000430397.5:c.43C>A (CLCN2)
ENST00000434054.6:c.968C>A (CLCN2)	ENSP00000400425.2:p.Pro323Gln
ENST00000444495.1:c.2106+211057G>T (EIF2B5)	ENSP00000409142.1:n.2106+211057G>T
ENST00000457512.1:c.1100C>A (CLCN2)	ENSP00000391928.1:p.Pro367Gln
ENST00000475279.1:n.118C>A (CLCN2)
ENST00000485667.1:n.1107C>A (CLCN2)
NM_001171087.2:c.1100C>A (CLCN2)	NP_001164558.1:p.Pro367Gln
NM_001171088.2:c.968C>A (CLCN2)	NP_001164559.1:p.Pro323Gln
NM_001171089.2:c.1100C>A (CLCN2)	NP_001164560.1:p.Pro367Gln
NM_004366.5:c.1100C>A (CLCN2)	NP_004357.3:p.Pro367Gln
XM_006713489.1:c.1100C>A (CLCN2)	XP_006713552.1:p.Pro367Gln
XM_006713490.1:c.-59C>A (CLCN2)	XP_006713553.1:n.-59C>A
XM_011512401.1:c.1100C>A (CLCN2)	XP_011510703.1:p.Pro367Gln
XM_011512402.1:c.1100C>A (CLCN2)	XP_011510704.1:p.Pro367Gln
XM_006713490.2:c.-59C>A (CLCN2)	XP_006713553.1:n.-59C>A
XR_001740001.1:n.1224C>A (CLCN2)
XR_001740002.1:n.1224C>A (CLCN2)
NM_004366.6:c.1100C>A (CLCN2) MANE Select	NP_004357.3:p.Pro367Gln
NM_001171087.3:c.1100C>A (CLCN2)	NP_001164558.1:p.Pro367Gln
NM_001171088.3:c.968C>A (CLCN2)	NP_001164559.1:p.Pro323Gln
NM_001171089.3:c.1100C>A (CLCN2)	NP_001164560.1:p.Pro367Gln