Canonical Allele Identifier: CA1425984497

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs1728509109
• gnomAD v4: 3-184355818-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355818G>A , CM000665.2:g.184355818G>A	GRCh38
NC_000003.11:g.184073606G>A , CM000665.1:g.184073606G>A	GRCh37
NC_000003.10:g.185556300G>A	NCBI36
NG_016422.1:g.10786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1086-40C>T (CLCN2) MANE Select	ENSP00000265593.4:n.1086-40C>T
ENST00000475279.2:c.428C>T (CLCN2)
ENST00000636180.1:c.*62-40C>T (CLCN2)	ENSP00000490374.1:n.*62-40C>T
ENST00000636241.1:c.977-40C>T (CLCN2)
ENST00000636492.1:c.969-40C>T (CLCN2)	ENSP00000490313.1:n.969-40C>T
ENST00000636658.1:c.347-40C>T (CLCN2)
ENST00000636661.1:c.*1236C>T (CLCN2)	ENSP00000490764.1:n.*1236C>T
ENST00000637392.1:n.2158C>T (CLCN2)
ENST00000637538.1:c.392-40C>T (CLCN2)
ENST00000637909.1:c.892-40C>T (CLCN2)
ENST00000638134.1:c.894-40C>T (CLCN2)
ENST00000265593.8:c.1086-40C>T (CLCN2)	ENSP00000265593.4:n.1086-40C>T
ENST00000344937.11:c.1086-40C>T (CLCN2)	ENSP00000345056.7:n.1086-40C>T
ENST00000430397.5:c.29-40C>T (CLCN2)
ENST00000434054.6:c.954-40C>T (CLCN2)	ENSP00000400425.2:n.954-40C>T
ENST00000444495.1:c.2106+211111G>A (EIF2B5)	ENSP00000409142.1:n.2106+211111G>A
ENST00000457512.1:c.1086-40C>T (CLCN2)	ENSP00000391928.1:n.1086-40C>T
ENST00000475279.1:n.64C>T (CLCN2)
ENST00000485667.1:n.1093-40C>T (CLCN2)
NM_001171087.2:c.1086-40C>T (CLCN2)	NP_001164558.1:n.1086-40C>T
NM_001171088.2:c.954-40C>T (CLCN2)	NP_001164559.1:n.954-40C>T
NM_001171089.2:c.1086-40C>T (CLCN2)	NP_001164560.1:n.1086-40C>T
NM_004366.5:c.1086-40C>T (CLCN2)	NP_004357.3:n.1086-40C>T
XM_006713489.1:c.1086-40C>T (CLCN2)	XP_006713552.1:n.1086-40C>T
XM_006713490.1:c.-113C>T (CLCN2)	XP_006713553.1:n.-113C>T
XM_011512401.1:c.1086-40C>T (CLCN2)	XP_011510703.1:n.1086-40C>T
XM_011512402.1:c.1086-40C>T (CLCN2)	XP_011510704.1:n.1086-40C>T
XM_006713490.2:c.-113C>T (CLCN2)	XP_006713553.1:n.-113C>T
XR_001740001.1:n.1210-40C>T (CLCN2)
XR_001740002.1:n.1210-40C>T (CLCN2)
NM_004366.6:c.1086-40C>T (CLCN2) MANE Select	NP_004357.3:n.1086-40C>T
NM_001171087.3:c.1086-40C>T (CLCN2)	NP_001164558.1:n.1086-40C>T
NM_001171088.3:c.954-40C>T (CLCN2)	NP_001164559.1:n.954-40C>T
NM_001171089.3:c.1086-40C>T (CLCN2)	NP_001164560.1:n.1086-40C>T