Canonical Allele Identifier: CA88896315

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs140004705
• gnomAD v3: 3-184355717-A-T
• gnomAD v4: 3-184355717-A-T
• MyVariant Identifiers: chr3:g.184073505A>T (hg19) ; chr3:g.184355717A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355717A>T , CM000665.2:g.184355717A>T	GRCh38
NC_000003.11:g.184073505A>T , CM000665.1:g.184073505A>T	GRCh37
NC_000003.10:g.185556199A>T	NCBI36
NG_016422.1:g.10887T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1147T>A (CLCN2) MANE Select	ENSP00000265593.4:p.Phe383Ile
ENST00000475279.2:c.529T>A (CLCN2)
ENST00000636180.1:c.*123T>A (CLCN2)	ENSP00000490374.1:n.*123T>A
ENST00000636241.1:c.1038T>A (CLCN2)
ENST00000636492.1:c.1030T>A (CLCN2)	ENSP00000490313.1:p.Phe344Ile
ENST00000636658.1:c.408T>A (CLCN2)
ENST00000636661.1:c.*1337T>A (CLCN2)	ENSP00000490764.1:n.*1337T>A
ENST00000637392.1:n.2259T>A (CLCN2)
ENST00000637538.1:c.453T>A (CLCN2)
ENST00000637909.1:c.953T>A (CLCN2)
ENST00000638134.1:c.955T>A (CLCN2)
ENST00000265593.8:c.1147T>A (CLCN2)	ENSP00000265593.4:p.Phe383Ile
ENST00000344937.11:c.1147T>A (CLCN2)	ENSP00000345056.7:p.Phe383Ile
ENST00000430397.5:c.90T>A (CLCN2)
ENST00000434054.6:c.1015T>A (CLCN2)	ENSP00000400425.2:p.Phe339Ile
ENST00000444495.1:c.2106+211010A>T (EIF2B5)	ENSP00000409142.1:n.2106+211010A>T
ENST00000457512.1:c.1147T>A (CLCN2)	ENSP00000391928.1:p.Phe383Ile
ENST00000475279.1:n.165T>A (CLCN2)
ENST00000485667.1:n.1154T>A (CLCN2)
NM_001171087.2:c.1147T>A (CLCN2)	NP_001164558.1:p.Phe383Ile
NM_001171088.2:c.1015T>A (CLCN2)	NP_001164559.1:p.Phe339Ile
NM_001171089.2:c.1147T>A (CLCN2)	NP_001164560.1:p.Phe383Ile
NM_004366.5:c.1147T>A (CLCN2)	NP_004357.3:p.Phe383Ile
XM_006713489.1:c.1147T>A (CLCN2)	XP_006713552.1:p.Phe383Ile
XM_006713490.1:c.-12T>A (CLCN2)	XP_006713553.1:n.-12T>A
XM_011512401.1:c.1147T>A (CLCN2)	XP_011510703.1:p.Phe383Ile
XM_011512402.1:c.1147T>A (CLCN2)	XP_011510704.1:p.Phe383Ile
XM_006713490.2:c.-12T>A (CLCN2)	XP_006713553.1:n.-12T>A
XR_001740001.1:n.1271T>A (CLCN2)
XR_001740002.1:n.1271T>A (CLCN2)
NM_004366.6:c.1147T>A (CLCN2) MANE Select	NP_004357.3:p.Phe383Ile
NM_001171087.3:c.1147T>A (CLCN2)	NP_001164558.1:p.Phe383Ile
NM_001171088.3:c.1015T>A (CLCN2)	NP_001164559.1:p.Phe339Ile
NM_001171089.3:c.1147T>A (CLCN2)	NP_001164560.1:p.Phe383Ile