Canonical Allele Identifier: CA355453565

Gene: CLCN2 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.184073534A>G (hg19) ; chr3:g.184355746A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184355746A>G , CM000665.2:g.184355746A>G	GRCh38
NC_000003.11:g.184073534A>G , CM000665.1:g.184073534A>G	GRCh37
NC_000003.10:g.185556228A>G	NCBI36
NG_016422.1:g.10858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.1118T>C (CLCN2) MANE Select	ENSP00000265593.4:p.Leu373Pro
ENST00000475279.2:c.500T>C (CLCN2)
ENST00000636180.1:c.*94T>C (CLCN2)	ENSP00000490374.1:n.*94T>C
ENST00000636241.1:c.1009T>C (CLCN2)
ENST00000636492.1:c.1001T>C (CLCN2)	ENSP00000490313.1:p.Leu334Pro
ENST00000636658.1:c.379T>C (CLCN2)
ENST00000636661.1:c.*1308T>C (CLCN2)	ENSP00000490764.1:n.*1308T>C
ENST00000637392.1:n.2230T>C (CLCN2)
ENST00000637538.1:c.424T>C (CLCN2)
ENST00000637909.1:c.924T>C (CLCN2)
ENST00000638134.1:c.926T>C (CLCN2)
ENST00000265593.8:c.1118T>C (CLCN2)	ENSP00000265593.4:p.Leu373Pro
ENST00000344937.11:c.1118T>C (CLCN2)	ENSP00000345056.7:p.Leu373Pro
ENST00000430397.5:c.61T>C (CLCN2)
ENST00000434054.6:c.986T>C (CLCN2)	ENSP00000400425.2:p.Leu329Pro
ENST00000444495.1:c.2106+211039A>G (EIF2B5)	ENSP00000409142.1:n.2106+211039A>G
ENST00000457512.1:c.1118T>C (CLCN2)	ENSP00000391928.1:p.Leu373Pro
ENST00000475279.1:n.136T>C (CLCN2)
ENST00000485667.1:n.1125T>C (CLCN2)
NM_001171087.2:c.1118T>C (CLCN2)	NP_001164558.1:p.Leu373Pro
NM_001171088.2:c.986T>C (CLCN2)	NP_001164559.1:p.Leu329Pro
NM_001171089.2:c.1118T>C (CLCN2)	NP_001164560.1:p.Leu373Pro
NM_004366.5:c.1118T>C (CLCN2)	NP_004357.3:p.Leu373Pro
XM_006713489.1:c.1118T>C (CLCN2)	XP_006713552.1:p.Leu373Pro
XM_006713490.1:c.-41T>C (CLCN2)	XP_006713553.1:n.-41T>C
XM_011512401.1:c.1118T>C (CLCN2)	XP_011510703.1:p.Leu373Pro
XM_011512402.1:c.1118T>C (CLCN2)	XP_011510704.1:p.Leu373Pro
XM_006713490.2:c.-41T>C (CLCN2)	XP_006713553.1:n.-41T>C
XR_001740001.1:n.1242T>C (CLCN2)
XR_001740002.1:n.1242T>C (CLCN2)
NM_004366.6:c.1118T>C (CLCN2) MANE Select	NP_004357.3:p.Leu373Pro
NM_001171087.3:c.1118T>C (CLCN2)	NP_001164558.1:p.Leu373Pro
NM_001171088.3:c.986T>C (CLCN2)	NP_001164559.1:p.Leu329Pro
NM_001171089.3:c.1118T>C (CLCN2)	NP_001164560.1:p.Leu373Pro