Canonical Allele Identifier: CA2733986

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs141242566
• ExAC: 3:184071510 C / A
• gnomAD v2: 3-184071510-C-A
• gnomAD v4: 3-184353722-C-A
• MyVariant Identifiers: chr3:g.184071510C>A (hg19) ; chr3:g.184353722C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184353722C>A , CM000665.2:g.184353722C>A	GRCh38
NC_000003.11:g.184071510C>A , CM000665.1:g.184071510C>A	GRCh37
NC_000003.10:g.185554204C>A	NCBI36
NG_016422.1:g.12882G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265593.9:c.1795G>T (CLCN2) MANE Select	ENSP00000265593.4:p.Asp599Tyr
ENST00000636180.1:c.*754-300G>T (CLCN2)	ENSP00000490374.1:n.*754-300G>T
ENST00000636241.1:c.1610G>T (CLCN2)
ENST00000636661.1:c.*1985G>T (CLCN2)	ENSP00000490764.1:n.*1985G>T
ENST00000637392.1:n.3398-300G>T (CLCN2)
ENST00000637538.1:c.1031G>T (CLCN2)
ENST00000637909.1:c.1601G>T (CLCN2)
ENST00000638134.1:c.2003G>T (CLCN2)
ENST00000265593.8:c.1795G>T (CLCN2)	ENSP00000265593.4:p.Asp599Tyr
ENST00000344937.11:c.1744G>T (CLCN2)	ENSP00000345056.7:p.Asp582Tyr
ENST00000430397.5:c.662G>T (CLCN2)
ENST00000434054.6:c.1663G>T (CLCN2)	ENSP00000400425.2:p.Asp555Tyr
ENST00000444495.1:c.2106+209015C>A (EIF2B5)	ENSP00000409142.1:n.2106+209015C>A
ENST00000457512.1:c.1795G>T (CLCN2)	ENSP00000391928.1:p.Asp599Tyr
NM_001171087.2:c.1744G>T (CLCN2)	NP_001164558.1:p.Asp582Tyr
NM_001171088.2:c.1663G>T (CLCN2)	NP_001164559.1:p.Asp555Tyr
NM_001171089.2:c.1795G>T (CLCN2)	NP_001164560.1:p.Asp599Tyr
NM_004366.5:c.1795G>T (CLCN2)	NP_004357.3:p.Asp599Tyr
XM_006713489.1:c.1795G>T (CLCN2)	XP_006713552.1:p.Asp599Tyr
XM_006713490.1:c.637G>T (CLCN2)	XP_006713553.1:p.Asp213Tyr
XM_011512401.1:c.1795G>T (CLCN2)	XP_011510703.1:p.Asp599Tyr
XM_006713490.2:c.637G>T (CLCN2)	XP_006713553.1:p.Asp213Tyr
XR_001740001.1:n.1975G>T (CLCN2)
XR_001740002.1:n.1975G>T (CLCN2)
NM_004366.6:c.1795G>T (CLCN2) MANE Select	NP_004357.3:p.Asp599Tyr
NM_001171087.3:c.1744G>T (CLCN2)	NP_001164558.1:p.Asp582Tyr
NM_001171088.3:c.1663G>T (CLCN2)	NP_001164559.1:p.Asp555Tyr
NM_001171089.3:c.1795G>T (CLCN2)	NP_001164560.1:p.Asp599Tyr