Canonical Allele Identifier: CA430666939

Gene: ALS2

Linked Data

• ClinVar Variation Id: 747018
• ClinVar RCV Id: RCV000923685
• dbSNP Id: rs1574653542
• gnomAD v3: 2-201704143-A-C
• gnomAD v4: 2-201704143-A-C
• MyVariant Identifiers: chr2:g.202568866A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704143A>C , CM000664.2:g.201704143A>C	GRCh38
NC_000002.11:g.202568866A>C , CM000664.1:g.202568866A>C	GRCh37
NC_000002.10:g.202277111A>C	NCBI36
NG_008775.1:g.82030T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4914T>G MANE Select	ENSP00000264276.6:p.Gly1638=
ENST00000439495.6:c.*1094T>G	ENSP00000403832.2:n.*1094T>G
ENST00000679409.1:c.*1619T>G	ENSP00000506531.1:n.*1619T>G
ENST00000679416.1:n.6418T>G
ENST00000679427.1:n.2585T>G
ENST00000679435.1:c.4914T>G	ENSP00000505218.1:p.Gly1638=
ENST00000679516.1:c.4914T>G	ENSP00000505187.1:p.Gly1638=
ENST00000679618.1:c.*2002T>G	ENSP00000506274.1:n.*2002T>G
ENST00000679630.1:n.6763T>G
ENST00000679635.1:n.3176T>G
ENST00000679686.1:n.5028T>G
ENST00000679701.1:n.7906T>G
ENST00000679916.1:c.*1262T>G	ENSP00000506172.1:n.*1262T>G
ENST00000680000.1:c.4914T>G	ENSP00000506173.1:p.Gly1638=
ENST00000680135.1:c.*2875T>G	ENSP00000506211.1:n.*2875T>G
ENST00000680149.1:c.*196T>G	ENSP00000506497.1:n.*196T>G
ENST00000680163.1:c.4914T>G	ENSP00000505092.1:p.Gly1638=
ENST00000680174.1:n.5605T>G
ENST00000680236.1:c.*1975T>G	ENSP00000506212.1:n.*1975T>G
ENST00000680404.1:n.429T>G
ENST00000680441.1:n.3472T>G
ENST00000680497.1:c.5016T>G	ENSP00000505954.1:p.Gly1672=
ENST00000680508.1:c.*70T>G	ENSP00000505749.1:n.*70T>G
ENST00000680569.1:c.*2857T>G	ENSP00000505522.1:n.*2857T>G
ENST00000680634.1:n.1422T>G
ENST00000680722.1:n.2714T>G
ENST00000680726.1:c.*196T>G	ENSP00000505505.1:n.*196T>G
ENST00000680759.1:c.4746T>G	ENSP00000505848.1:p.Gly1582=
ENST00000680814.1:c.4838+311T>G	ENSP00000505710.1:n.4838+311T>G
ENST00000680828.1:c.*2608T>G	ENSP00000505249.1:n.*2608T>G
ENST00000680861.1:c.4914T>G	ENSP00000505043.1:p.Gly1638=
ENST00000680927.1:c.*1094T>G	ENSP00000505473.1:n.*1094T>G
ENST00000680939.1:n.6855T>G
ENST00000681250.1:c.*1631T>G	ENSP00000505684.1:n.*1631T>G
ENST00000681256.1:c.*2929T>G	ENSP00000505446.1:n.*2929T>G
ENST00000681279.1:n.5780T>G
ENST00000681307.1:n.6027T>G
ENST00000681461.1:n.5682T>G
ENST00000681495.1:c.2451T>G	ENSP00000506085.1:p.Gly817=
ENST00000681558.1:c.2592T>G	ENSP00000505568.1:p.Gly864=
ENST00000681619.1:c.4911T>G	ENSP00000505071.1:p.Gly1637=
ENST00000681663.1:n.1820T>G
ENST00000681692.1:n.2874T>G
ENST00000681716.1:c.*2768T>G	ENSP00000505078.1:n.*2768T>G
ENST00000681768.1:c.*2578T>G	ENSP00000506311.1:n.*2578T>G
ENST00000681808.1:c.4737T>G	ENSP00000505219.1:p.Gly1579=
ENST00000264276.10:c.4914T>G	ENSP00000264276.6:p.Gly1638=
ENST00000439495.5:c.3018T>G
NM_020919.3:c.4914T>G	NP_065970.2:p.Gly1638=
XM_005246709.2:c.4911T>G	XP_005246766.1:p.Gly1637=
XM_006712654.1:c.4914T>G	XP_006712717.1:p.Gly1638=
XM_006712655.2:c.2850T>G	XP_006712718.1:p.Gly950=
XM_011511530.1:c.4575T>G	XP_011509832.1:p.Gly1525=
XR_922974.1:n.5192T>G
XM_006712654.3:c.4914T>G	XP_006712717.1:p.Gly1638=
XM_006712655.3:c.2850T>G	XP_006712718.1:p.Gly950=
XM_017004569.2:c.4911T>G	XP_016860058.1:p.Gly1637=
XM_017004572.2:c.2532T>G	XP_016860061.1:p.Gly844=
XM_024453024.1:c.4575T>G	XP_024308792.1:p.Gly1525=
XM_024453025.1:c.2847T>G	XP_024308793.1:p.Gly949=
XR_001738864.2:n.5029T>G
XR_001738865.2:n.5026T>G
XR_001738866.2:n.5192T>G
XR_001738867.2:n.5189T>G
XR_002959320.1:n.4085T>G
NM_020919.4:c.4914T>G MANE Select	NP_065970.2:p.Gly1638=