Canonical Allele Identifier: CA437167354

Gene: CLCN2 EIF2B5

Linked Data

• gnomAD v4: 3-184355392-G-T
• MyVariant Identifiers: chr3:g.184073180G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355392G>T , CM000665.2:g.184355392G>T	GRCh38
NC_000003.11:g.184073180G>T , CM000665.1:g.184073180G>T	GRCh37
NC_000003.10:g.185555874G>T	NCBI36
NG_016422.1:g.11212C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1308C>A (CLCN2) MANE Select	ENSP00000265593.4:p.Val436=
ENST00000475279.2:c.690C>A (CLCN2)
ENST00000636180.1:c.*284C>A (CLCN2)	ENSP00000490374.1:n.*284C>A
ENST00000636241.1:c.1199C>A (CLCN2)
ENST00000636492.1:c.1191C>A (CLCN2)	ENSP00000490313.1:p.Val397=
ENST00000636658.1:c.569C>A (CLCN2)
ENST00000636661.1:c.*1498C>A (CLCN2)	ENSP00000490764.1:n.*1498C>A
ENST00000637392.1:n.2584C>A (CLCN2)
ENST00000637538.1:c.614C>A (CLCN2)
ENST00000637909.1:c.1114C>A (CLCN2)
ENST00000638134.1:c.1116C>A (CLCN2)
ENST00000265593.8:c.1308C>A (CLCN2)	ENSP00000265593.4:p.Val436=
ENST00000344937.11:c.1308C>A (CLCN2)	ENSP00000345056.7:p.Val436=
ENST00000430397.5:c.251C>A (CLCN2)
ENST00000434054.6:c.1176C>A (CLCN2)	ENSP00000400425.2:p.Val392=
ENST00000444495.1:c.2106+210685G>T (EIF2B5)	ENSP00000409142.1:n.2106+210685G>T
ENST00000457512.1:c.1308C>A (CLCN2)	ENSP00000391928.1:p.Val436=
ENST00000485667.1:n.1315C>A (CLCN2)
NM_001171087.2:c.1308C>A (CLCN2)	NP_001164558.1:p.Val436=
NM_001171088.2:c.1176C>A (CLCN2)	NP_001164559.1:p.Val392=
NM_001171089.2:c.1308C>A (CLCN2)	NP_001164560.1:p.Val436=
NM_004366.5:c.1308C>A (CLCN2)	NP_004357.3:p.Val436=
XM_006713489.1:c.1308C>A (CLCN2)	XP_006713552.1:p.Val436=
XM_006713490.1:c.150C>A (CLCN2)	XP_006713553.1:p.Val50=
XM_011512401.1:c.1308C>A (CLCN2)	XP_011510703.1:p.Val436=
XM_011512402.1:c.1308C>A (CLCN2)	XP_011510704.1:p.Val436=
XM_006713490.2:c.150C>A (CLCN2)	XP_006713553.1:p.Val50=
XR_001740001.1:n.1432C>A (CLCN2)
XR_001740002.1:n.1432C>A (CLCN2)
NM_004366.6:c.1308C>A (CLCN2) MANE Select	NP_004357.3:p.Val436=
NM_001171087.3:c.1308C>A (CLCN2)	NP_001164558.1:p.Val436=
NM_001171088.3:c.1176C>A (CLCN2)	NP_001164559.1:p.Val392=
NM_001171089.3:c.1308C>A (CLCN2)	NP_001164560.1:p.Val436=