Canonical Allele Identifier: CA350321051

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202569303T>A (hg19) ; chr2:g.201704580T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704580T>A , CM000664.2:g.201704580T>A	GRCh38
NC_000002.11:g.202569303T>A , CM000664.1:g.202569303T>A	GRCh37
NC_000002.10:g.202277548T>A	NCBI36
NG_008775.1:g.81593A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.4712A>T MANE Select	ENSP00000264276.6:p.Lys1571Ile
ENST00000439495.6:c.*892A>T	ENSP00000403832.2:n.*892A>T
ENST00000679409.1:c.*1182A>T	ENSP00000506531.1:n.*1182A>T
ENST00000679416.1:n.6216A>T
ENST00000679427.1:n.2148A>T
ENST00000679435.1:c.4712A>T	ENSP00000505218.1:p.Lys1571Ile
ENST00000679516.1:c.4712A>T	ENSP00000505187.1:p.Lys1571Ile
ENST00000679618.1:c.*1800A>T	ENSP00000506274.1:n.*1800A>T
ENST00000679630.1:n.6561A>T
ENST00000679635.1:n.2739A>T
ENST00000679686.1:n.4826A>T
ENST00000679701.1:n.7704A>T
ENST00000679916.1:c.*1060A>T	ENSP00000506172.1:n.*1060A>T
ENST00000680000.1:c.4712A>T	ENSP00000506173.1:p.Lys1571Ile
ENST00000680135.1:c.*2673A>T	ENSP00000506211.1:n.*2673A>T
ENST00000680149.1:c.4689A>T	ENSP00000506497.1:p.Gln1563His
ENST00000680163.1:c.4712A>T	ENSP00000505092.1:p.Lys1571Ile
ENST00000680174.1:n.5403A>T
ENST00000680236.1:c.*1773A>T	ENSP00000506212.1:n.*1773A>T
ENST00000680404.1:n.227A>T
ENST00000680441.1:n.3270A>T
ENST00000680497.1:c.4814A>T	ENSP00000505954.1:p.Lys1605Ile
ENST00000680508.1:c.4709A>T	ENSP00000505749.1:p.Lys1570Ile
ENST00000680569.1:c.*2420A>T	ENSP00000505522.1:n.*2420A>T
ENST00000680634.1:n.1220A>T
ENST00000680722.1:n.2512A>T
ENST00000680726.1:c.4692A>T	ENSP00000505505.1:p.Gln1564His
ENST00000680759.1:c.4544A>T	ENSP00000505848.1:p.Lys1515Ile
ENST00000680814.1:c.4712A>T	ENSP00000505710.1:p.Lys1571Ile
ENST00000680828.1:c.*2406A>T	ENSP00000505249.1:n.*2406A>T
ENST00000680861.1:c.4712A>T	ENSP00000505043.1:p.Lys1571Ile
ENST00000680927.1:c.*892A>T	ENSP00000505473.1:n.*892A>T
ENST00000680939.1:n.6418A>T
ENST00000681250.1:c.*1429A>T	ENSP00000505684.1:n.*1429A>T
ENST00000681256.1:c.*2727A>T	ENSP00000505446.1:n.*2727A>T
ENST00000681279.1:n.5578A>T
ENST00000681307.1:n.5825A>T
ENST00000681461.1:n.5480A>T
ENST00000681495.1:c.2249A>T	ENSP00000506085.1:p.Lys750Ile
ENST00000681558.1:c.2390A>T	ENSP00000505568.1:p.Lys797Ile
ENST00000681619.1:c.4709A>T	ENSP00000505071.1:p.Lys1570Ile
ENST00000681663.1:n.1618A>T
ENST00000681692.1:n.2672A>T
ENST00000681716.1:c.*2566A>T	ENSP00000505078.1:n.*2566A>T
ENST00000681768.1:c.*2376A>T	ENSP00000506311.1:n.*2376A>T
ENST00000681808.1:c.4535A>T	ENSP00000505219.1:p.Lys1512Ile
ENST00000264276.10:c.4712A>T	ENSP00000264276.6:p.Lys1571Ile
ENST00000439495.5:c.2816A>T
NM_020919.3:c.4712A>T	NP_065970.2:p.Lys1571Ile
XM_005246709.2:c.4709A>T	XP_005246766.1:p.Lys1570Ile
XM_006712654.1:c.4712A>T	XP_006712717.1:p.Lys1571Ile
XM_006712655.2:c.2648A>T	XP_006712718.1:p.Lys883Ile
XM_011511530.1:c.4373A>T	XP_011509832.1:p.Lys1458Ile
XR_922974.1:n.4990A>T
XM_006712654.3:c.4712A>T	XP_006712717.1:p.Lys1571Ile
XM_006712655.3:c.2648A>T	XP_006712718.1:p.Lys883Ile
XM_017004569.2:c.4709A>T	XP_016860058.1:p.Lys1570Ile
XM_017004572.2:c.2330A>T	XP_016860061.1:p.Lys777Ile
XM_024453024.1:c.4373A>T	XP_024308792.1:p.Lys1458Ile
XM_024453025.1:c.2645A>T	XP_024308793.1:p.Lys882Ile
XR_001738864.2:n.4827A>T
XR_001738865.2:n.4824A>T
XR_001738866.2:n.4990A>T
XR_001738867.2:n.4987A>T
XR_002959320.1:n.3883A>T
NM_020919.4:c.4712A>T MANE Select	NP_065970.2:p.Lys1571Ile