Canonical Allele Identifier: CA2733819

Gene: CLCN2 EIF2B5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184352798G>A , CM000665.2:g.184352798G>A	GRCh38
NC_000003.11:g.184070586G>A , CM000665.1:g.184070586G>A	GRCh37
NC_000003.10:g.185553280G>A	NCBI36
NG_016422.1:g.13806C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.2156C>T (CLCN2) MANE Select	ENSP00000265593.4:p.Ser719Leu
ENST00000636180.1:c.*1054C>T (CLCN2)	ENSP00000490374.1:n.*1054C>T
ENST00000636661.1:c.*2466C>T (CLCN2)	ENSP00000490764.1:n.*2466C>T
ENST00000637258.1:n.574C>T (CLCN2)
ENST00000637392.1:n.3698C>T (CLCN2)
ENST00000637538.1:c.1392C>T (CLCN2)
ENST00000637909.1:c.1962C>T (CLCN2)
ENST00000265593.8:c.2156C>T (CLCN2)	ENSP00000265593.4:p.Ser719Leu
ENST00000344937.11:c.2105C>T (CLCN2)	ENSP00000345056.7:p.Ser702Leu
ENST00000430397.5:c.1023C>T (CLCN2)
ENST00000434054.6:c.2024C>T (CLCN2)	ENSP00000400425.2:p.Ser675Leu
ENST00000444495.1:c.2106+208091G>A (EIF2B5)	ENSP00000409142.1:n.2106+208091G>A
ENST00000457512.1:c.2156C>T (CLCN2)	ENSP00000391928.1:p.Ser719Leu
ENST00000491162.1:n.175C>T (CLCN2)
NM_001171087.2:c.2105C>T (CLCN2)	NP_001164558.1:p.Ser702Leu
NM_001171088.2:c.2024C>T (CLCN2)	NP_001164559.1:p.Ser675Leu
NM_001171089.2:c.2156C>T (CLCN2)	NP_001164560.1:p.Ser719Leu
NM_004366.5:c.2156C>T (CLCN2)	NP_004357.3:p.Ser719Leu
XM_006713489.1:c.2156C>T (CLCN2)	XP_006713552.1:p.Ser719Leu
XM_006713490.1:c.998C>T (CLCN2)	XP_006713553.1:p.Ser333Leu
XM_011512401.1:c.2156C>T (CLCN2)	XP_011510703.1:p.Ser719Leu
XM_006713490.2:c.998C>T (CLCN2)	XP_006713553.1:p.Ser333Leu
XR_001740001.1:n.2336C>T (CLCN2)
XR_001740002.1:n.2336C>T (CLCN2)
NM_004366.6:c.2156C>T (CLCN2) MANE Select	NP_004357.3:p.Ser719Leu
NM_001171087.3:c.2105C>T (CLCN2)	NP_001164558.1:p.Ser702Leu
NM_001171088.3:c.2024C>T (CLCN2)	NP_001164559.1:p.Ser675Leu
NM_001171089.3:c.2156C>T (CLCN2)	NP_001164560.1:p.Ser719Leu