Canonical Allele Identifier: CA350320490

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568932A>T (hg19) ; chr2:g.201704209A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704209A>T , CM000664.2:g.201704209A>T	GRCh38
NC_000002.11:g.202568932A>T , CM000664.1:g.202568932A>T	GRCh37
NC_000002.10:g.202277177A>T	NCBI36
NG_008775.1:g.81964T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4848T>A MANE Select	ENSP00000264276.6:p.Asn1616Lys
ENST00000439495.6:c.*1028T>A	ENSP00000403832.2:n.*1028T>A
ENST00000679409.1:c.*1553T>A	ENSP00000506531.1:n.*1553T>A
ENST00000679416.1:n.6352T>A
ENST00000679427.1:n.2519T>A
ENST00000679435.1:c.4848T>A	ENSP00000505218.1:p.Asn1616Lys
ENST00000679516.1:c.4848T>A	ENSP00000505187.1:p.Asn1616Lys
ENST00000679618.1:c.*1936T>A	ENSP00000506274.1:n.*1936T>A
ENST00000679630.1:n.6697T>A
ENST00000679635.1:n.3110T>A
ENST00000679686.1:n.4962T>A
ENST00000679701.1:n.7840T>A
ENST00000679916.1:c.*1196T>A	ENSP00000506172.1:n.*1196T>A
ENST00000680000.1:c.4848T>A	ENSP00000506173.1:p.Asn1616Lys
ENST00000680135.1:c.*2809T>A	ENSP00000506211.1:n.*2809T>A
ENST00000680149.1:c.*130T>A	ENSP00000506497.1:n.*130T>A
ENST00000680163.1:c.4848T>A	ENSP00000505092.1:p.Asn1616Lys
ENST00000680174.1:n.5539T>A
ENST00000680236.1:c.*1909T>A	ENSP00000506212.1:n.*1909T>A
ENST00000680404.1:n.363T>A
ENST00000680441.1:n.3406T>A
ENST00000680497.1:c.4950T>A	ENSP00000505954.1:p.Asn1650Lys
ENST00000680508.1:c.*4T>A	ENSP00000505749.1:n.*4T>A
ENST00000680569.1:c.*2791T>A	ENSP00000505522.1:n.*2791T>A
ENST00000680634.1:n.1356T>A
ENST00000680722.1:n.2648T>A
ENST00000680726.1:c.*130T>A	ENSP00000505505.1:n.*130T>A
ENST00000680759.1:c.4680T>A	ENSP00000505848.1:p.Asn1560Lys
ENST00000680814.1:c.4838+245T>A	ENSP00000505710.1:n.4838+245T>A
ENST00000680828.1:c.*2542T>A	ENSP00000505249.1:n.*2542T>A
ENST00000680861.1:c.4848T>A	ENSP00000505043.1:p.Asn1616Lys
ENST00000680927.1:c.*1028T>A	ENSP00000505473.1:n.*1028T>A
ENST00000680939.1:n.6789T>A
ENST00000681250.1:c.*1565T>A	ENSP00000505684.1:n.*1565T>A
ENST00000681256.1:c.*2863T>A	ENSP00000505446.1:n.*2863T>A
ENST00000681279.1:n.5714T>A
ENST00000681307.1:n.5961T>A
ENST00000681461.1:n.5616T>A
ENST00000681495.1:c.2385T>A	ENSP00000506085.1:p.Asn795Lys
ENST00000681558.1:c.2526T>A	ENSP00000505568.1:p.Asn842Lys
ENST00000681619.1:c.4845T>A	ENSP00000505071.1:p.Asn1615Lys
ENST00000681663.1:n.1754T>A
ENST00000681692.1:n.2808T>A
ENST00000681716.1:c.*2702T>A	ENSP00000505078.1:n.*2702T>A
ENST00000681768.1:c.*2512T>A	ENSP00000506311.1:n.*2512T>A
ENST00000681808.1:c.4671T>A	ENSP00000505219.1:p.Asn1557Lys
ENST00000264276.10:c.4848T>A	ENSP00000264276.6:p.Asn1616Lys
ENST00000439495.5:c.2952T>A
NM_020919.3:c.4848T>A	NP_065970.2:p.Asn1616Lys
XM_005246709.2:c.4845T>A	XP_005246766.1:p.Asn1615Lys
XM_006712654.1:c.4848T>A	XP_006712717.1:p.Asn1616Lys
XM_006712655.2:c.2784T>A	XP_006712718.1:p.Asn928Lys
XM_011511530.1:c.4509T>A	XP_011509832.1:p.Asn1503Lys
XR_922974.1:n.5126T>A
XM_006712654.3:c.4848T>A	XP_006712717.1:p.Asn1616Lys
XM_006712655.3:c.2784T>A	XP_006712718.1:p.Asn928Lys
XM_017004569.2:c.4845T>A	XP_016860058.1:p.Asn1615Lys
XM_017004572.2:c.2466T>A	XP_016860061.1:p.Asn822Lys
XM_024453024.1:c.4509T>A	XP_024308792.1:p.Asn1503Lys
XM_024453025.1:c.2781T>A	XP_024308793.1:p.Asn927Lys
XR_001738864.2:n.4963T>A
XR_001738865.2:n.4960T>A
XR_001738866.2:n.5126T>A
XR_001738867.2:n.5123T>A
XR_002959320.1:n.4019T>A
NM_020919.4:c.4848T>A MANE Select	NP_065970.2:p.Asn1616Lys