Canonical Allele Identifier: CA350320232

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568865T>C (hg19) ; chr2:g.201704142T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704142T>C , CM000664.2:g.201704142T>C	GRCh38
NC_000002.11:g.202568865T>C , CM000664.1:g.202568865T>C	GRCh37
NC_000002.10:g.202277110T>C	NCBI36
NG_008775.1:g.82031A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4915A>G MANE Select	ENSP00000264276.6:p.Ile1639Val
ENST00000439495.6:c.*1095A>G	ENSP00000403832.2:n.*1095A>G
ENST00000679409.1:c.*1620A>G	ENSP00000506531.1:n.*1620A>G
ENST00000679416.1:n.6419A>G
ENST00000679427.1:n.2586A>G
ENST00000679435.1:c.4915A>G	ENSP00000505218.1:p.Ile1639Val
ENST00000679516.1:c.4915A>G	ENSP00000505187.1:p.Ile1639Val
ENST00000679618.1:c.*2003A>G	ENSP00000506274.1:n.*2003A>G
ENST00000679630.1:n.6764A>G
ENST00000679635.1:n.3177A>G
ENST00000679686.1:n.5029A>G
ENST00000679701.1:n.7907A>G
ENST00000679916.1:c.*1263A>G	ENSP00000506172.1:n.*1263A>G
ENST00000680000.1:c.4915A>G	ENSP00000506173.1:p.Ile1639Val
ENST00000680135.1:c.*2876A>G	ENSP00000506211.1:n.*2876A>G
ENST00000680149.1:c.*197A>G	ENSP00000506497.1:n.*197A>G
ENST00000680163.1:c.4915A>G	ENSP00000505092.1:p.Ile1639Val
ENST00000680174.1:n.5606A>G
ENST00000680236.1:c.*1976A>G	ENSP00000506212.1:n.*1976A>G
ENST00000680404.1:n.430A>G
ENST00000680441.1:n.3473A>G
ENST00000680497.1:c.5017A>G	ENSP00000505954.1:p.Ile1673Val
ENST00000680508.1:c.*71A>G	ENSP00000505749.1:n.*71A>G
ENST00000680569.1:c.*2858A>G	ENSP00000505522.1:n.*2858A>G
ENST00000680634.1:n.1423A>G
ENST00000680722.1:n.2715A>G
ENST00000680726.1:c.*197A>G	ENSP00000505505.1:n.*197A>G
ENST00000680759.1:c.4747A>G	ENSP00000505848.1:p.Ile1583Val
ENST00000680814.1:c.4838+312A>G	ENSP00000505710.1:n.4838+312A>G
ENST00000680828.1:c.*2609A>G	ENSP00000505249.1:n.*2609A>G
ENST00000680861.1:c.4915A>G	ENSP00000505043.1:p.Ile1639Val
ENST00000680927.1:c.*1095A>G	ENSP00000505473.1:n.*1095A>G
ENST00000680939.1:n.6856A>G
ENST00000681250.1:c.*1632A>G	ENSP00000505684.1:n.*1632A>G
ENST00000681256.1:c.*2930A>G	ENSP00000505446.1:n.*2930A>G
ENST00000681279.1:n.5781A>G
ENST00000681307.1:n.6028A>G
ENST00000681461.1:n.5683A>G
ENST00000681495.1:c.2452A>G	ENSP00000506085.1:p.Ile818Val
ENST00000681558.1:c.2593A>G	ENSP00000505568.1:p.Ile865Val
ENST00000681619.1:c.4912A>G	ENSP00000505071.1:p.Ile1638Val
ENST00000681663.1:n.1821A>G
ENST00000681692.1:n.2875A>G
ENST00000681716.1:c.*2769A>G	ENSP00000505078.1:n.*2769A>G
ENST00000681768.1:c.*2579A>G	ENSP00000506311.1:n.*2579A>G
ENST00000681808.1:c.4738A>G	ENSP00000505219.1:p.Ile1580Val
ENST00000264276.10:c.4915A>G	ENSP00000264276.6:p.Ile1639Val
ENST00000439495.5:c.3019A>G
NM_020919.3:c.4915A>G	NP_065970.2:p.Ile1639Val
XM_005246709.2:c.4912A>G	XP_005246766.1:p.Ile1638Val
XM_006712654.1:c.4915A>G	XP_006712717.1:p.Ile1639Val
XM_006712655.2:c.2851A>G	XP_006712718.1:p.Ile951Val
XM_011511530.1:c.4576A>G	XP_011509832.1:p.Ile1526Val
XR_922974.1:n.5193A>G
XM_006712654.3:c.4915A>G	XP_006712717.1:p.Ile1639Val
XM_006712655.3:c.2851A>G	XP_006712718.1:p.Ile951Val
XM_017004569.2:c.4912A>G	XP_016860058.1:p.Ile1638Val
XM_017004572.2:c.2533A>G	XP_016860061.1:p.Ile845Val
XM_024453024.1:c.4576A>G	XP_024308792.1:p.Ile1526Val
XM_024453025.1:c.2848A>G	XP_024308793.1:p.Ile950Val
XR_001738864.2:n.5030A>G
XR_001738865.2:n.5027A>G
XR_001738866.2:n.5193A>G
XR_001738867.2:n.5190A>G
XR_002959320.1:n.4086A>G
NM_020919.4:c.4915A>G MANE Select	NP_065970.2:p.Ile1639Val