Canonical Allele Identifier: CA350320294

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568878A>C (hg19) ; chr2:g.201704155A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704155A>C , CM000664.2:g.201704155A>C	GRCh38
NC_000002.11:g.202568878A>C , CM000664.1:g.202568878A>C	GRCh37
NC_000002.10:g.202277123A>C	NCBI36
NG_008775.1:g.82018T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4902T>G MANE Select	ENSP00000264276.6:p.His1634Gln
ENST00000439495.6:c.*1082T>G	ENSP00000403832.2:n.*1082T>G
ENST00000679409.1:c.*1607T>G	ENSP00000506531.1:n.*1607T>G
ENST00000679416.1:n.6406T>G
ENST00000679427.1:n.2573T>G
ENST00000679435.1:c.4902T>G	ENSP00000505218.1:p.His1634Gln
ENST00000679516.1:c.4902T>G	ENSP00000505187.1:p.His1634Gln
ENST00000679618.1:c.*1990T>G	ENSP00000506274.1:n.*1990T>G
ENST00000679630.1:n.6751T>G
ENST00000679635.1:n.3164T>G
ENST00000679686.1:n.5016T>G
ENST00000679701.1:n.7894T>G
ENST00000679916.1:c.*1250T>G	ENSP00000506172.1:n.*1250T>G
ENST00000680000.1:c.4902T>G	ENSP00000506173.1:p.His1634Gln
ENST00000680135.1:c.*2863T>G	ENSP00000506211.1:n.*2863T>G
ENST00000680149.1:c.*184T>G	ENSP00000506497.1:n.*184T>G
ENST00000680163.1:c.4902T>G	ENSP00000505092.1:p.His1634Gln
ENST00000680174.1:n.5593T>G
ENST00000680236.1:c.*1963T>G	ENSP00000506212.1:n.*1963T>G
ENST00000680404.1:n.417T>G
ENST00000680441.1:n.3460T>G
ENST00000680497.1:c.5004T>G	ENSP00000505954.1:p.His1668Gln
ENST00000680508.1:c.*58T>G	ENSP00000505749.1:n.*58T>G
ENST00000680569.1:c.*2845T>G	ENSP00000505522.1:n.*2845T>G
ENST00000680634.1:n.1410T>G
ENST00000680722.1:n.2702T>G
ENST00000680726.1:c.*184T>G	ENSP00000505505.1:n.*184T>G
ENST00000680759.1:c.4734T>G	ENSP00000505848.1:p.His1578Gln
ENST00000680814.1:c.4838+299T>G	ENSP00000505710.1:n.4838+299T>G
ENST00000680828.1:c.*2596T>G	ENSP00000505249.1:n.*2596T>G
ENST00000680861.1:c.4902T>G	ENSP00000505043.1:p.His1634Gln
ENST00000680927.1:c.*1082T>G	ENSP00000505473.1:n.*1082T>G
ENST00000680939.1:n.6843T>G
ENST00000681250.1:c.*1619T>G	ENSP00000505684.1:n.*1619T>G
ENST00000681256.1:c.*2917T>G	ENSP00000505446.1:n.*2917T>G
ENST00000681279.1:n.5768T>G
ENST00000681307.1:n.6015T>G
ENST00000681461.1:n.5670T>G
ENST00000681495.1:c.2439T>G	ENSP00000506085.1:p.His813Gln
ENST00000681558.1:c.2580T>G	ENSP00000505568.1:p.His860Gln
ENST00000681619.1:c.4899T>G	ENSP00000505071.1:p.His1633Gln
ENST00000681663.1:n.1808T>G
ENST00000681692.1:n.2862T>G
ENST00000681716.1:c.*2756T>G	ENSP00000505078.1:n.*2756T>G
ENST00000681768.1:c.*2566T>G	ENSP00000506311.1:n.*2566T>G
ENST00000681808.1:c.4725T>G	ENSP00000505219.1:p.His1575Gln
ENST00000264276.10:c.4902T>G	ENSP00000264276.6:p.His1634Gln
ENST00000439495.5:c.3006T>G
NM_020919.3:c.4902T>G	NP_065970.2:p.His1634Gln
XM_005246709.2:c.4899T>G	XP_005246766.1:p.His1633Gln
XM_006712654.1:c.4902T>G	XP_006712717.1:p.His1634Gln
XM_006712655.2:c.2838T>G	XP_006712718.1:p.His946Gln
XM_011511530.1:c.4563T>G	XP_011509832.1:p.His1521Gln
XR_922974.1:n.5180T>G
XM_006712654.3:c.4902T>G	XP_006712717.1:p.His1634Gln
XM_006712655.3:c.2838T>G	XP_006712718.1:p.His946Gln
XM_017004569.2:c.4899T>G	XP_016860058.1:p.His1633Gln
XM_017004572.2:c.2520T>G	XP_016860061.1:p.His840Gln
XM_024453024.1:c.4563T>G	XP_024308792.1:p.His1521Gln
XM_024453025.1:c.2835T>G	XP_024308793.1:p.His945Gln
XR_001738864.2:n.5017T>G
XR_001738865.2:n.5014T>G
XR_001738866.2:n.5180T>G
XR_001738867.2:n.5177T>G
XR_002959320.1:n.4073T>G
NM_020919.4:c.4902T>G MANE Select	NP_065970.2:p.His1634Gln