Canonical Allele Identifier: CA350320135

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568846T>A (hg19) ; chr2:g.201704123T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704123T>A , CM000664.2:g.201704123T>A	GRCh38
NC_000002.11:g.202568846T>A , CM000664.1:g.202568846T>A	GRCh37
NC_000002.10:g.202277091T>A	NCBI36
NG_008775.1:g.82050A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4934A>T MANE Select	ENSP00000264276.6:p.Lys1645Met
ENST00000439495.6:c.*1114A>T	ENSP00000403832.2:n.*1114A>T
ENST00000679409.1:c.*1639A>T	ENSP00000506531.1:n.*1639A>T
ENST00000679416.1:n.6438A>T
ENST00000679427.1:n.2605A>T
ENST00000679435.1:c.4934A>T	ENSP00000505218.1:p.Lys1645Met
ENST00000679516.1:c.4934A>T	ENSP00000505187.1:p.Lys1645Met
ENST00000679618.1:c.*2022A>T	ENSP00000506274.1:n.*2022A>T
ENST00000679630.1:n.6783A>T
ENST00000679635.1:n.3196A>T
ENST00000679686.1:n.5048A>T
ENST00000679701.1:n.7926A>T
ENST00000679916.1:c.*1282A>T	ENSP00000506172.1:n.*1282A>T
ENST00000680000.1:c.4934A>T	ENSP00000506173.1:p.Lys1645Met
ENST00000680135.1:c.*2895A>T	ENSP00000506211.1:n.*2895A>T
ENST00000680149.1:c.*216A>T	ENSP00000506497.1:n.*216A>T
ENST00000680163.1:c.4934A>T	ENSP00000505092.1:p.Lys1645Met
ENST00000680174.1:n.5625A>T
ENST00000680236.1:c.*1995A>T	ENSP00000506212.1:n.*1995A>T
ENST00000680404.1:n.449A>T
ENST00000680441.1:n.3492A>T
ENST00000680497.1:c.5036A>T	ENSP00000505954.1:p.Lys1679Met
ENST00000680508.1:c.*90A>T	ENSP00000505749.1:n.*90A>T
ENST00000680569.1:c.*2877A>T	ENSP00000505522.1:n.*2877A>T
ENST00000680634.1:n.1442A>T
ENST00000680722.1:n.2734A>T
ENST00000680726.1:c.*216A>T	ENSP00000505505.1:n.*216A>T
ENST00000680759.1:c.4766A>T	ENSP00000505848.1:p.Lys1589Met
ENST00000680814.1:c.4838+331A>T	ENSP00000505710.1:n.4838+331A>T
ENST00000680828.1:c.*2628A>T	ENSP00000505249.1:n.*2628A>T
ENST00000680861.1:c.4934A>T	ENSP00000505043.1:p.Lys1645Met
ENST00000680927.1:c.*1114A>T	ENSP00000505473.1:n.*1114A>T
ENST00000680939.1:n.6875A>T
ENST00000681250.1:c.*1651A>T	ENSP00000505684.1:n.*1651A>T
ENST00000681256.1:c.*2949A>T	ENSP00000505446.1:n.*2949A>T
ENST00000681279.1:n.5800A>T
ENST00000681307.1:n.6047A>T
ENST00000681461.1:n.5702A>T
ENST00000681495.1:c.2471A>T	ENSP00000506085.1:p.Lys824Met
ENST00000681558.1:c.2612A>T	ENSP00000505568.1:p.Lys871Met
ENST00000681619.1:c.4931A>T	ENSP00000505071.1:p.Lys1644Met
ENST00000681663.1:n.1840A>T
ENST00000681692.1:n.2894A>T
ENST00000681716.1:c.*2788A>T	ENSP00000505078.1:n.*2788A>T
ENST00000681768.1:c.*2598A>T	ENSP00000506311.1:n.*2598A>T
ENST00000681808.1:c.4757A>T	ENSP00000505219.1:p.Lys1586Met
ENST00000264276.10:c.4934A>T	ENSP00000264276.6:p.Lys1645Met
ENST00000439495.5:c.3038A>T
NM_020919.3:c.4934A>T	NP_065970.2:p.Lys1645Met
XM_005246709.2:c.4931A>T	XP_005246766.1:p.Lys1644Met
XM_006712654.1:c.4934A>T	XP_006712717.1:p.Lys1645Met
XM_006712655.2:c.2870A>T	XP_006712718.1:p.Lys957Met
XM_011511530.1:c.4595A>T	XP_011509832.1:p.Lys1532Met
XR_922974.1:n.5212A>T
XM_006712654.3:c.4934A>T	XP_006712717.1:p.Lys1645Met
XM_006712655.3:c.2870A>T	XP_006712718.1:p.Lys957Met
XM_017004569.2:c.4931A>T	XP_016860058.1:p.Lys1644Met
XM_017004572.2:c.2552A>T	XP_016860061.1:p.Lys851Met
XM_024453024.1:c.4595A>T	XP_024308792.1:p.Lys1532Met
XM_024453025.1:c.2867A>T	XP_024308793.1:p.Lys956Met
XR_001738864.2:n.5049A>T
XR_001738865.2:n.5046A>T
XR_001738866.2:n.5212A>T
XR_001738867.2:n.5209A>T
XR_002959320.1:n.4105A>T
NM_020919.4:c.4934A>T MANE Select	NP_065970.2:p.Lys1645Met