Canonical Allele Identifier: CA350321064

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202569306T>C (hg19) ; chr2:g.201704583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704583T>C , CM000664.2:g.201704583T>C	GRCh38
NC_000002.11:g.202569306T>C , CM000664.1:g.202569306T>C	GRCh37
NC_000002.10:g.202277551T>C	NCBI36
NG_008775.1:g.81590A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.4709A>G MANE Select	ENSP00000264276.6:p.Asp1570Gly
ENST00000439495.6:c.*889A>G	ENSP00000403832.2:n.*889A>G
ENST00000679409.1:c.*1179A>G	ENSP00000506531.1:n.*1179A>G
ENST00000679416.1:n.6213A>G
ENST00000679427.1:n.2145A>G
ENST00000679435.1:c.4709A>G	ENSP00000505218.1:p.Asp1570Gly
ENST00000679516.1:c.4709A>G	ENSP00000505187.1:p.Asp1570Gly
ENST00000679618.1:c.*1797A>G	ENSP00000506274.1:n.*1797A>G
ENST00000679630.1:n.6558A>G
ENST00000679635.1:n.2736A>G
ENST00000679686.1:n.4823A>G
ENST00000679701.1:n.7701A>G
ENST00000679916.1:c.*1057A>G	ENSP00000506172.1:n.*1057A>G
ENST00000680000.1:c.4709A>G	ENSP00000506173.1:p.Asp1570Gly
ENST00000680135.1:c.*2670A>G	ENSP00000506211.1:n.*2670A>G
ENST00000680149.1:c.4686A>G	ENSP00000506497.1:p.Arg1562=
ENST00000680163.1:c.4709A>G	ENSP00000505092.1:p.Asp1570Gly
ENST00000680174.1:n.5400A>G
ENST00000680236.1:c.*1770A>G	ENSP00000506212.1:n.*1770A>G
ENST00000680404.1:n.224A>G
ENST00000680441.1:n.3267A>G
ENST00000680497.1:c.4811A>G	ENSP00000505954.1:p.Asp1604Gly
ENST00000680508.1:c.4706A>G	ENSP00000505749.1:p.Asp1569Gly
ENST00000680569.1:c.*2417A>G	ENSP00000505522.1:n.*2417A>G
ENST00000680634.1:n.1217A>G
ENST00000680722.1:n.2509A>G
ENST00000680726.1:c.4689A>G	ENSP00000505505.1:p.Arg1563=
ENST00000680759.1:c.4541A>G	ENSP00000505848.1:p.Asp1514Gly
ENST00000680814.1:c.4709A>G	ENSP00000505710.1:p.Asp1570Gly
ENST00000680828.1:c.*2403A>G	ENSP00000505249.1:n.*2403A>G
ENST00000680861.1:c.4709A>G	ENSP00000505043.1:p.Asp1570Gly
ENST00000680927.1:c.*889A>G	ENSP00000505473.1:n.*889A>G
ENST00000680939.1:n.6415A>G
ENST00000681250.1:c.*1426A>G	ENSP00000505684.1:n.*1426A>G
ENST00000681256.1:c.*2724A>G	ENSP00000505446.1:n.*2724A>G
ENST00000681279.1:n.5575A>G
ENST00000681307.1:n.5822A>G
ENST00000681461.1:n.5477A>G
ENST00000681495.1:c.2246A>G	ENSP00000506085.1:p.Asp749Gly
ENST00000681558.1:c.2387A>G	ENSP00000505568.1:p.Asp796Gly
ENST00000681619.1:c.4706A>G	ENSP00000505071.1:p.Asp1569Gly
ENST00000681663.1:n.1615A>G
ENST00000681692.1:n.2669A>G
ENST00000681716.1:c.*2563A>G	ENSP00000505078.1:n.*2563A>G
ENST00000681768.1:c.*2373A>G	ENSP00000506311.1:n.*2373A>G
ENST00000681808.1:c.4532A>G	ENSP00000505219.1:p.Asp1511Gly
ENST00000264276.10:c.4709A>G	ENSP00000264276.6:p.Asp1570Gly
ENST00000439495.5:c.2813A>G
NM_020919.3:c.4709A>G	NP_065970.2:p.Asp1570Gly
XM_005246709.2:c.4706A>G	XP_005246766.1:p.Asp1569Gly
XM_006712654.1:c.4709A>G	XP_006712717.1:p.Asp1570Gly
XM_006712655.2:c.2645A>G	XP_006712718.1:p.Asp882Gly
XM_011511530.1:c.4370A>G	XP_011509832.1:p.Asp1457Gly
XR_922974.1:n.4987A>G
XM_006712654.3:c.4709A>G	XP_006712717.1:p.Asp1570Gly
XM_006712655.3:c.2645A>G	XP_006712718.1:p.Asp882Gly
XM_017004569.2:c.4706A>G	XP_016860058.1:p.Asp1569Gly
XM_017004572.2:c.2327A>G	XP_016860061.1:p.Asp776Gly
XM_024453024.1:c.4370A>G	XP_024308792.1:p.Asp1457Gly
XM_024453025.1:c.2642A>G	XP_024308793.1:p.Asp881Gly
XR_001738864.2:n.4824A>G
XR_001738865.2:n.4821A>G
XR_001738866.2:n.4987A>G
XR_001738867.2:n.4984A>G
XR_002959320.1:n.3880A>G
NM_020919.4:c.4709A>G MANE Select	NP_065970.2:p.Asp1570Gly