Canonical Allele Identifier: CA437166209

Gene: CLCN2 EIF2B5

Linked Data

• dbSNP Id: rs1324695446
• gnomAD v2: 3-184069881-G-A
• gnomAD v3: 3-184352093-G-A
• gnomAD v4: 3-184352093-G-A
• MyVariant Identifiers: chr3:g.184069881G>A (hg19) ; chr3:g.184352093G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184352093G>A , CM000665.2:g.184352093G>A	GRCh38
NC_000003.11:g.184069881G>A , CM000665.1:g.184069881G>A	GRCh37
NC_000003.10:g.185552575G>A	NCBI36
NG_016422.1:g.14511C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265593.9:c.2335C>T (CLCN2) MANE Select	ENSP00000265593.4:p.Leu779=
ENST00000636180.1:c.*1233C>T (CLCN2)	ENSP00000490374.1:n.*1233C>T
ENST00000636661.1:c.*2645C>T (CLCN2)	ENSP00000490764.1:n.*2645C>T
ENST00000637392.1:n.3877C>T (CLCN2)
ENST00000637909.1:c.2141C>T (CLCN2)
ENST00000265593.8:c.2335C>T (CLCN2)	ENSP00000265593.4:p.Leu779=
ENST00000344937.11:c.2284C>T (CLCN2)	ENSP00000345056.7:p.Leu762=
ENST00000430397.5:c.1177+200C>T (CLCN2)
ENST00000434054.6:c.2203C>T (CLCN2)	ENSP00000400425.2:p.Leu735=
ENST00000444495.1:c.2106+207386G>A (EIF2B5)	ENSP00000409142.1:n.2106+207386G>A
ENST00000457512.1:c.2335C>T (CLCN2)	ENSP00000391928.1:p.Leu779=
NM_001171087.2:c.2284C>T (CLCN2)	NP_001164558.1:p.Leu762=
NM_001171088.2:c.2203C>T (CLCN2)	NP_001164559.1:p.Leu735=
NM_001171089.2:c.2335C>T (CLCN2)	NP_001164560.1:p.Leu779=
NM_004366.5:c.2335C>T (CLCN2)	NP_004357.3:p.Leu779=
XM_006713489.1:c.2310+200C>T (CLCN2)	XP_006713552.1:n.2310+200C>T
XM_006713490.1:c.1177C>T (CLCN2)	XP_006713553.1:p.Leu393=
XM_011512401.1:c.2335C>T (CLCN2)	XP_011510703.1:p.Leu779=
XM_006713490.2:c.1177C>T (CLCN2)	XP_006713553.1:p.Leu393=
XR_001740001.1:n.2515C>T (CLCN2)
XR_001740002.1:n.2490+200C>T (CLCN2)
NM_004366.6:c.2335C>T (CLCN2) MANE Select	NP_004357.3:p.Leu779=
NM_001171087.3:c.2284C>T (CLCN2)	NP_001164558.1:p.Leu762=
NM_001171088.3:c.2203C>T (CLCN2)	NP_001164559.1:p.Leu735=
NM_001171089.3:c.2335C>T (CLCN2)	NP_001164560.1:p.Leu779=