Canonical Allele Identifier: CA430666855

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568851G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704128G>T , CM000664.2:g.201704128G>T	GRCh38
NC_000002.11:g.202568851G>T , CM000664.1:g.202568851G>T	GRCh37
NC_000002.10:g.202277096G>T	NCBI36
NG_008775.1:g.82045C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4929C>A MANE Select	ENSP00000264276.6:p.Thr1643=
ENST00000439495.6:c.*1109C>A	ENSP00000403832.2:n.*1109C>A
ENST00000679409.1:c.*1634C>A	ENSP00000506531.1:n.*1634C>A
ENST00000679416.1:n.6433C>A
ENST00000679427.1:n.2600C>A
ENST00000679435.1:c.4929C>A	ENSP00000505218.1:p.Thr1643=
ENST00000679516.1:c.4929C>A	ENSP00000505187.1:p.Thr1643=
ENST00000679618.1:c.*2017C>A	ENSP00000506274.1:n.*2017C>A
ENST00000679630.1:n.6778C>A
ENST00000679635.1:n.3191C>A
ENST00000679686.1:n.5043C>A
ENST00000679701.1:n.7921C>A
ENST00000679916.1:c.*1277C>A	ENSP00000506172.1:n.*1277C>A
ENST00000680000.1:c.4929C>A	ENSP00000506173.1:p.Thr1643=
ENST00000680135.1:c.*2890C>A	ENSP00000506211.1:n.*2890C>A
ENST00000680149.1:c.*211C>A	ENSP00000506497.1:n.*211C>A
ENST00000680163.1:c.4929C>A	ENSP00000505092.1:p.Thr1643=
ENST00000680174.1:n.5620C>A
ENST00000680236.1:c.*1990C>A	ENSP00000506212.1:n.*1990C>A
ENST00000680404.1:n.444C>A
ENST00000680441.1:n.3487C>A
ENST00000680497.1:c.5031C>A	ENSP00000505954.1:p.Thr1677=
ENST00000680508.1:c.*85C>A	ENSP00000505749.1:n.*85C>A
ENST00000680569.1:c.*2872C>A	ENSP00000505522.1:n.*2872C>A
ENST00000680634.1:n.1437C>A
ENST00000680722.1:n.2729C>A
ENST00000680726.1:c.*211C>A	ENSP00000505505.1:n.*211C>A
ENST00000680759.1:c.4761C>A	ENSP00000505848.1:p.Thr1587=
ENST00000680814.1:c.4838+326C>A	ENSP00000505710.1:n.4838+326C>A
ENST00000680828.1:c.*2623C>A	ENSP00000505249.1:n.*2623C>A
ENST00000680861.1:c.4929C>A	ENSP00000505043.1:p.Thr1643=
ENST00000680927.1:c.*1109C>A	ENSP00000505473.1:n.*1109C>A
ENST00000680939.1:n.6870C>A
ENST00000681250.1:c.*1646C>A	ENSP00000505684.1:n.*1646C>A
ENST00000681256.1:c.*2944C>A	ENSP00000505446.1:n.*2944C>A
ENST00000681279.1:n.5795C>A
ENST00000681307.1:n.6042C>A
ENST00000681461.1:n.5697C>A
ENST00000681495.1:c.2466C>A	ENSP00000506085.1:p.Thr822=
ENST00000681558.1:c.2607C>A	ENSP00000505568.1:p.Thr869=
ENST00000681619.1:c.4926C>A	ENSP00000505071.1:p.Thr1642=
ENST00000681663.1:n.1835C>A
ENST00000681692.1:n.2889C>A
ENST00000681716.1:c.*2783C>A	ENSP00000505078.1:n.*2783C>A
ENST00000681768.1:c.*2593C>A	ENSP00000506311.1:n.*2593C>A
ENST00000681808.1:c.4752C>A	ENSP00000505219.1:p.Thr1584=
ENST00000264276.10:c.4929C>A	ENSP00000264276.6:p.Thr1643=
ENST00000439495.5:c.3033C>A
NM_020919.3:c.4929C>A	NP_065970.2:p.Thr1643=
XM_005246709.2:c.4926C>A	XP_005246766.1:p.Thr1642=
XM_006712654.1:c.4929C>A	XP_006712717.1:p.Thr1643=
XM_006712655.2:c.2865C>A	XP_006712718.1:p.Thr955=
XM_011511530.1:c.4590C>A	XP_011509832.1:p.Thr1530=
XR_922974.1:n.5207C>A
XM_006712654.3:c.4929C>A	XP_006712717.1:p.Thr1643=
XM_006712655.3:c.2865C>A	XP_006712718.1:p.Thr955=
XM_017004569.2:c.4926C>A	XP_016860058.1:p.Thr1642=
XM_017004572.2:c.2547C>A	XP_016860061.1:p.Thr849=
XM_024453024.1:c.4590C>A	XP_024308792.1:p.Thr1530=
XM_024453025.1:c.2862C>A	XP_024308793.1:p.Thr954=
XR_001738864.2:n.5044C>A
XR_001738865.2:n.5041C>A
XR_001738866.2:n.5207C>A
XR_001738867.2:n.5204C>A
XR_002959320.1:n.4100C>A
NM_020919.4:c.4929C>A MANE Select	NP_065970.2:p.Thr1643=