Canonical Allele Identifier: CA2057837

Gene: ALS2

Linked Data

• ClinVar Variation Id: 1673220
• ClinVar RCV Id: RCV002213678
• dbSNP Id: rs41309048
• ExAC: 2:202588113 A / G
• gnomAD v2: 2-202588113-A-G
• gnomAD v3: 2-201723390-A-G
• gnomAD v4: 2-201723390-A-G
• MyVariant Identifiers: chr2:g.202588113A>G (hg19) ; chr2:g.201723390A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723390A>G , CM000664.2:g.201723390A>G	GRCh38
NC_000002.11:g.202588113A>G , CM000664.1:g.202588113A>G	GRCh37
NC_000002.10:g.202296358A>G	NCBI36
NG_008775.1:g.62783T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.3564T>C MANE Select	ENSP00000264276.6:p.Gly1188=
ENST00000439495.6:c.1242T>C	ENSP00000403832.2:p.Gly414=
ENST00000482891.6:n.4332T>C
ENST00000494017.6:n.1296T>C
ENST00000679409.1:c.1242T>C	ENSP00000506531.1:p.Gly414=
ENST00000679416.1:n.5068T>C
ENST00000679435.1:c.3564T>C	ENSP00000505218.1:p.Gly1188=
ENST00000679516.1:c.3564T>C	ENSP00000505187.1:p.Gly1188=
ENST00000679618.1:c.*652T>C	ENSP00000506274.1:n.*652T>C
ENST00000679630.1:n.5413T>C
ENST00000679686.1:n.3678T>C
ENST00000679701.1:n.6556T>C
ENST00000679916.1:c.3564T>C	ENSP00000506172.1:p.Gly1188=
ENST00000680000.1:c.3564T>C	ENSP00000506173.1:p.Gly1188=
ENST00000680135.1:c.*1528T>C	ENSP00000506211.1:n.*1528T>C
ENST00000680149.1:c.3564T>C	ENSP00000506497.1:p.Gly1188=
ENST00000680163.1:c.3564T>C	ENSP00000505092.1:p.Gly1188=
ENST00000680174.1:n.4255T>C
ENST00000680236.1:c.*625T>C	ENSP00000506212.1:n.*625T>C
ENST00000680497.1:c.3666T>C	ENSP00000505954.1:p.Gly1222=
ENST00000680508.1:c.3564T>C	ENSP00000505749.1:p.Gly1188=
ENST00000680569.1:c.*1275T>C	ENSP00000505522.1:n.*1275T>C
ENST00000680630.1:n.3996T>C
ENST00000680634.1:n.21-2901T>C
ENST00000680722.1:n.1364T>C
ENST00000680723.1:n.4347T>C
ENST00000680726.1:c.3564T>C	ENSP00000505505.1:p.Gly1188=
ENST00000680737.1:n.3835T>C
ENST00000680759.1:c.3564T>C	ENSP00000505848.1:p.Gly1188=
ENST00000680814.1:c.3564T>C	ENSP00000505710.1:p.Gly1188=
ENST00000680828.1:c.*1136T>C	ENSP00000505249.1:n.*1136T>C
ENST00000680861.1:c.3564T>C	ENSP00000505043.1:p.Gly1188=
ENST00000680927.1:c.3564T>C	ENSP00000505473.1:p.Gly1188=
ENST00000680939.1:n.3906T>C
ENST00000681152.1:c.3564T>C	ENSP00000505388.1:p.Gly1188=
ENST00000681250.1:c.*281T>C	ENSP00000505684.1:n.*281T>C
ENST00000681256.1:c.*1582T>C	ENSP00000505446.1:n.*1582T>C
ENST00000681279.1:n.4332T>C
ENST00000681303.1:c.3564T>C	ENSP00000505576.1:p.Gly1188=
ENST00000681307.1:n.4677T>C
ENST00000681461.1:n.4332T>C
ENST00000681495.1:c.1104T>C	ENSP00000506085.1:p.Gly368=
ENST00000681558.1:c.1242T>C	ENSP00000505568.1:p.Gly414=
ENST00000681619.1:c.3564T>C	ENSP00000505071.1:p.Gly1188=
ENST00000681716.1:c.*1275T>C	ENSP00000505078.1:n.*1275T>C
ENST00000681758.1:n.3906T>C
ENST00000681768.1:c.*1228T>C	ENSP00000506311.1:n.*1228T>C
ENST00000681808.1:c.3564T>C	ENSP00000505219.1:p.Gly1188=
ENST00000264276.10:c.3564T>C	ENSP00000264276.6:p.Gly1188=
ENST00000439495.5:c.1525T>C
ENST00000482891.5:n.3704T>C
ENST00000489440.5:n.385T>C
NM_020919.3:c.3564T>C	NP_065970.2:p.Gly1188=
XM_005246709.2:c.3564T>C	XP_005246766.1:p.Gly1188=
XM_006712654.1:c.3564T>C	XP_006712717.1:p.Gly1188=
XM_006712655.2:c.1500T>C	XP_006712718.1:p.Gly500=
XM_011511530.1:c.3225T>C	XP_011509832.1:p.Gly1075=
XM_011511531.1:c.3564T>C	XP_011509833.1:p.Gly1188=
XR_922974.1:n.3699T>C
XM_006712654.3:c.3564T>C	XP_006712717.1:p.Gly1188=
XM_006712655.3:c.1500T>C	XP_006712718.1:p.Gly500=
XM_017004569.2:c.3564T>C	XP_016860058.1:p.Gly1188=
XM_017004570.2:c.3564T>C	XP_016860059.1:p.Gly1188=
XM_017004572.2:c.1182T>C	XP_016860061.1:p.Gly394=
XM_024453024.1:c.3225T>C	XP_024308792.1:p.Gly1075=
XM_024453025.1:c.1500T>C	XP_024308793.1:p.Gly500=
XR_001738864.2:n.3699T>C
XR_001738865.2:n.3699T>C
XR_001738866.2:n.3699T>C
XR_001738867.2:n.3699T>C
XR_002959320.1:n.2755T>C
NM_020919.4:c.3564T>C MANE Select	NP_065970.2:p.Gly1188=